SNP Links for Protein (Select 1217325882) - SNP

Links from Protein

Items: 1 to 20 of 316

<< First< Prev

Page of 16

Next >Last >>

Select item 14911668601.

rs1491166860 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 13:114291744 (GRCh38)
13:115057220 (GRCh37)
Canonical SPDI:: NC_000013.11:114291744:G:GG
Gene:: UPF3A (Varview), LOC124903222 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,3_prime_UTR_variant,coding_sequence_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
HGVS:: NC_000013.11:g.114291745dup, NC_000013.10:g.115057220dup, NG_029528.1:g.15162dup, NM_023011.4:c.799dup, NM_023011.3:c.799dup, NM_080687.3:c.700dup, NM_080687.2:c.700dup, NM_001353648.2:c.196dup, NM_001353648.1:c.196dup, NM_001353644.2:c.196dup, NM_001353644.1:c.196dup, NR_148482.2:n.782dup, NR_148482.1:n.799dup, NR_148485.2:n.632dup, NR_148485.1:n.649dup, NM_001353645.1:c.196dup, NM_001353650.1:c.196dup, NM_001353647.1:c.196dup, NR_148491.1:n.646dup, NM_001353646.1:c.196dup, NM_001353649.1:c.196dup, NR_148486.1:n.580dup, NR_148487.1:n.702dup, NR_148492.1:n.679dup, NR_148489.1:n.603dup, NR_148493.1:n.440dup, NR_148496.1:n.580dup, NR_148490.1:n.473dup, NR_148494.1:n.547dup, XM_011534845.3:c.409dup, XM_011534845.2:c.409dup, XM_011534845.1:c.409dup, XM_011534844.2:c.589dup, XM_011534844.1:c.589dup, XM_024449401.2:c.196dup, XM_024449401.1:c.196dup, XM_011534846.2:c.799dup, XM_011534846.1:c.799dup, XM_024449402.2:c.776dup, XM_024449402.1:c.776dup, XM_024449403.2:c.*112dup, XM_047430548.1:c.196dup, XM_047430546.1:c.799dup, XM_047430549.1:c.700dup, NP_075387.1:p.Glu267fs, NP_542418.1:p.Glu234fs, NP_001340577.1:p.Glu66fs, NP_001340573.1:p.Glu66fs, NP_001340574.1:p.Glu66fs, NP_001340579.1:p.Glu66fs, NP_001340576.1:p.Glu66fs, NP_001340575.1:p.Glu66fs, NP_001340578.1:p.Glu66fs, XP_011533147.1:p.Glu137fs, XP_011533146.1:p.Glu197fs, XP_024305169.1:p.Glu66fs, XP_011533148.1:p.Glu267fs, XP_024305170.1:p.Asp260fs, XP_047286504.1:p.Glu66fs, XP_047286502.1:p.Glu267fs, XP_047286505.1:p.Glu234fs

Select item 14906031382.

rs1490603138 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:114291734 (GRCh38)
13:115057209 (GRCh37)
Canonical SPDI:: NC_000013.11:114291733:G:A
Gene:: UPF3A (Varview), LOC124903222 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,coding_sequence_variant,upstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0011/10 (ALFA)
HGVS:: NC_000013.11:g.114291734G>A, NC_000013.10:g.115057209G>A, NG_029528.1:g.15151G>A, NM_023011.4:c.788G>A, NM_023011.3:c.788G>A, NM_080687.3:c.689G>A, NM_080687.2:c.689G>A, NM_001353648.2:c.185G>A, NM_001353648.1:c.185G>A, NM_001353644.2:c.185G>A, NM_001353644.1:c.185G>A, NR_148482.2:n.771G>A, NR_148482.1:n.788G>A, NR_148485.2:n.621G>A, NR_148485.1:n.638G>A, NM_001353645.1:c.185G>A, NM_001353650.1:c.185G>A, NM_001353647.1:c.185G>A, NR_148491.1:n.635G>A, NM_001353646.1:c.185G>A, NM_001353649.1:c.185G>A, NR_148486.1:n.569G>A, NR_148487.1:n.691G>A, NR_148492.1:n.668G>A, NR_148489.1:n.592G>A, NR_148493.1:n.429G>A, NR_148496.1:n.569G>A, NR_148490.1:n.462G>A, NR_148494.1:n.536G>A, XM_011534845.3:c.398G>A, XM_011534845.2:c.398G>A, XM_011534845.1:c.398G>A, XM_011534844.2:c.578G>A, XM_011534844.1:c.578G>A, XM_024449401.2:c.185G>A, XM_024449401.1:c.185G>A, XM_011534846.2:c.788G>A, XM_011534846.1:c.788G>A, XM_024449402.2:c.765G>A, XM_024449402.1:c.765G>A, XM_024449403.2:c.*101G>A, XM_047430548.1:c.185G>A, XM_047430546.1:c.788G>A, XM_047430549.1:c.689G>A, NP_075387.1:p.Cys263Tyr, NP_542418.1:p.Cys230Tyr, NP_001340577.1:p.Cys62Tyr, NP_001340573.1:p.Cys62Tyr, NP_001340574.1:p.Cys62Tyr, NP_001340579.1:p.Cys62Tyr, NP_001340576.1:p.Cys62Tyr, NP_001340575.1:p.Cys62Tyr, NP_001340578.1:p.Cys62Tyr, XP_011533147.1:p.Cys133Tyr, XP_011533146.1:p.Cys193Tyr, XP_024305169.1:p.Cys62Tyr, XP_011533148.1:p.Cys263Tyr, XP_024305170.1:p.Met255Ile, XP_047286504.1:p.Cys62Tyr, XP_047286502.1:p.Cys263Tyr, XP_047286505.1:p.Cys230Tyr

Select item 14877375923.

rs1487737592 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:114291501 (GRCh38)
13:115056976 (GRCh37)
Canonical SPDI:: NC_000013.11:114291500:C:T
Gene:: UPF3A (Varview), LOC124903222 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,upstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.114291501C>T, NC_000013.10:g.115056976C>T, NG_029528.1:g.14918C>T, NM_023011.4:c.644C>T, NM_023011.3:c.644C>T, NM_080687.3:c.545C>T, NM_080687.2:c.545C>T, NM_001353648.2:c.41C>T, NM_001353648.1:c.41C>T, NM_001353644.2:c.41C>T, NM_001353644.1:c.41C>T, NR_148485.2:n.477C>T, NR_148485.1:n.494C>T, NM_001353645.1:c.41C>T, NM_001353650.1:c.41C>T, NM_001353647.1:c.41C>T, NM_001353646.1:c.41C>T, NM_001353649.1:c.41C>T, NR_148487.1:n.547C>T, NR_148489.1:n.448C>T, XM_011534845.3:c.254C>T, XM_011534845.2:c.254C>T, XM_011534845.1:c.254C>T, XM_011534844.2:c.434C>T, XM_011534844.1:c.434C>T, XM_024449401.2:c.41C>T, XM_024449401.1:c.41C>T, XM_011534846.2:c.644C>T, XM_011534846.1:c.644C>T, XM_047430548.1:c.41C>T, XM_047430546.1:c.644C>T, XM_047430549.1:c.545C>T, NP_075387.1:p.Thr215Ile, NP_542418.1:p.Thr182Ile, NP_001340577.1:p.Thr14Ile, NP_001340573.1:p.Thr14Ile, NP_001340574.1:p.Thr14Ile, NP_001340579.1:p.Thr14Ile, NP_001340576.1:p.Thr14Ile, NP_001340575.1:p.Thr14Ile, NP_001340578.1:p.Thr14Ile, XP_011533147.1:p.Thr85Ile, XP_011533146.1:p.Thr145Ile, XP_024305169.1:p.Thr14Ile, XP_011533148.1:p.Thr215Ile, XP_047286504.1:p.Thr14Ile, XP_047286502.1:p.Thr215Ile, XP_047286505.1:p.Thr182Ile

Select item 14873223464.

rs1487322346 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:114291707 (GRCh38)
13:115057182 (GRCh37)
Canonical SPDI:: NC_000013.11:114291706:A:G
Gene:: UPF3A (Varview), LOC124903222 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.114291707A>G, NC_000013.10:g.115057182A>G, NG_029528.1:g.15124A>G, NM_023011.4:c.761A>G, NM_023011.3:c.761A>G, NM_080687.3:c.662A>G, NM_080687.2:c.662A>G, NM_001353648.2:c.158A>G, NM_001353648.1:c.158A>G, NM_001353644.2:c.158A>G, NM_001353644.1:c.158A>G, NR_148482.2:n.744A>G, NR_148482.1:n.761A>G, NR_148485.2:n.594A>G, NR_148485.1:n.611A>G, NM_001353645.1:c.158A>G, NM_001353650.1:c.158A>G, NM_001353647.1:c.158A>G, NR_148491.1:n.608A>G, NM_001353646.1:c.158A>G, NM_001353649.1:c.158A>G, NR_148486.1:n.542A>G, NR_148487.1:n.664A>G, NR_148492.1:n.641A>G, NR_148489.1:n.565A>G, NR_148493.1:n.402A>G, NR_148496.1:n.542A>G, NR_148490.1:n.435A>G, NR_148494.1:n.509A>G, XM_011534845.3:c.371A>G, XM_011534845.2:c.371A>G, XM_011534845.1:c.371A>G, XM_011534844.2:c.551A>G, XM_011534844.1:c.551A>G, XM_024449401.2:c.158A>G, XM_024449401.1:c.158A>G, XM_011534846.2:c.761A>G, XM_011534846.1:c.761A>G, XM_024449402.2:c.738A>G, XM_024449402.1:c.738A>G, XM_024449403.2:c.*74A>G, XM_024449403.1:c.*74A>G, XM_047430548.1:c.158A>G, XM_047430546.1:c.761A>G, XM_047430549.1:c.662A>G, NP_075387.1:p.Lys254Arg, NP_542418.1:p.Lys221Arg, NP_001340577.1:p.Lys53Arg, NP_001340573.1:p.Lys53Arg, NP_001340574.1:p.Lys53Arg, NP_001340579.1:p.Lys53Arg, NP_001340576.1:p.Lys53Arg, NP_001340575.1:p.Lys53Arg, NP_001340578.1:p.Lys53Arg, XP_011533147.1:p.Lys124Arg, XP_011533146.1:p.Lys184Arg, XP_024305169.1:p.Lys53Arg, XP_011533148.1:p.Lys254Arg, XP_047286504.1:p.Lys53Arg, XP_047286502.1:p.Lys254Arg, XP_047286505.1:p.Lys221Arg

Select item 14868670095.

rs1486867009 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 13:114301987 (GRCh38)
13:115067462 (GRCh37)
Canonical SPDI:: NC_000013.11:114301986:G:A,NC_000013.11:114301986:G:T
Gene:: UPF3A (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000005/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.114301987G>A, NC_000013.11:g.114301987G>T, NC_000013.10:g.115067462G>A, NC_000013.10:g.115067462G>T, NG_029528.1:g.25404G>A, NG_029528.1:g.25404G>T, NM_023011.4:c.1264G>A, NM_023011.4:c.1264G>T, NM_023011.3:c.1264G>A, NM_023011.3:c.1264G>T, NM_080687.3:c.1165G>A, NM_080687.3:c.1165G>T, NM_080687.2:c.1165G>A, NM_080687.2:c.1165G>T, NM_001353648.2:c.661G>A, NM_001353648.2:c.661G>T, NM_001353648.1:c.661G>A, NM_001353648.1:c.661G>T, NM_001353644.2:c.661G>A, NM_001353644.2:c.661G>T, NM_001353644.1:c.661G>A, NM_001353644.1:c.661G>T, NR_148482.2:n.1086G>A, NR_148482.2:n.1086G>T, NR_148482.1:n.1103G>A, NR_148482.1:n.1103G>T, NR_148484.2:n.771G>A, NR_148484.2:n.771G>T, NR_148484.1:n.788G>A, NR_148484.1:n.788G>T, NM_001353645.1:c.661G>A, NM_001353645.1:c.661G>T, NM_001353650.1:c.649G>A, NM_001353650.1:c.649G>T, NM_001353647.1:c.661G>A, NM_001353647.1:c.661G>T, NR_148491.1:n.1111G>A, NR_148491.1:n.1111G>T, NM_001353646.1:c.661G>A, NM_001353646.1:c.661G>T, NM_001353649.1:c.649G>A, NM_001353649.1:c.649G>T, NR_148486.1:n.1045G>A, NR_148486.1:n.1045G>T, NR_148487.1:n.1006G>A, NR_148487.1:n.1006G>T, NR_148492.1:n.983G>A, NR_148492.1:n.983G>T, NR_148489.1:n.907G>A, NR_148489.1:n.907G>T, NR_148493.1:n.905G>A, NR_148493.1:n.905G>T, NR_148496.1:n.884G>A, NR_148496.1:n.884G>T, NR_148488.1:n.853G>A, NR_148488.1:n.853G>T, NR_148490.1:n.777G>A, NR_148490.1:n.777G>T, NR_148495.1:n.581G>A, NR_148495.1:n.581G>T, XM_011534845.3:c.874G>A, XM_011534845.3:c.874G>T, XM_011534845.2:c.874G>A, XM_011534845.2:c.874G>T, XM_011534845.1:c.874G>A, XM_011534845.1:c.874G>T, XM_011534844.2:c.1054G>A, XM_011534844.2:c.1054G>T, XM_011534844.1:c.1054G>A, XM_011534844.1:c.1054G>T, XM_024449401.2:c.661G>A, XM_024449401.2:c.661G>T, XM_024449401.1:c.661G>A, XM_024449401.1:c.661G>T, XM_047430548.1:c.661G>A, XM_047430548.1:c.661G>T, XM_047430546.1:c.*239G>A, XM_047430546.1:c.*239G>T, XM_047430549.1:c.*239G>A, XM_047430549.1:c.*239G>T, NP_075387.1:p.Asp422Asn, NP_075387.1:p.Asp422Tyr, NP_542418.1:p.Asp389Asn, NP_542418.1:p.Asp389Tyr, NP_001340577.1:p.Asp221Asn, NP_001340577.1:p.Asp221Tyr, NP_001340573.1:p.Asp221Asn, NP_001340573.1:p.Asp221Tyr, NP_001340574.1:p.Asp221Asn, NP_001340574.1:p.Asp221Tyr, NP_001340579.1:p.Asp217Asn, NP_001340579.1:p.Asp217Tyr, NP_001340576.1:p.Asp221Asn, NP_001340576.1:p.Asp221Tyr, NP_001340575.1:p.Asp221Asn, NP_001340575.1:p.Asp221Tyr, NP_001340578.1:p.Asp217Asn, NP_001340578.1:p.Asp217Tyr, XP_011533147.1:p.Asp292Asn, XP_011533147.1:p.Asp292Tyr, XP_011533146.1:p.Asp352Asn, XP_011533146.1:p.Asp352Tyr, XP_024305169.1:p.Asp221Asn, XP_024305169.1:p.Asp221Tyr, XP_047286504.1:p.Asp221Asn, XP_047286504.1:p.Asp221Tyr

Select item 14811047366.

rs1481104736 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 13:114304799 (GRCh38)
13:115070274 (GRCh37)
Canonical SPDI:: NC_000013.11:114304798:C:A
Gene:: UPF3A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000013.11:g.114304799C>A, NC_000013.10:g.115070274C>A, NG_029528.1:g.28216C>A, NM_023011.4:c.1313C>A, NM_023011.3:c.1313C>A, NM_080687.3:c.1214C>A, NM_080687.2:c.1214C>A, NM_001353648.2:c.710C>A, NM_001353648.1:c.710C>A, NM_001353644.2:c.710C>A, NM_001353644.1:c.710C>A, NR_148482.2:n.1135C>A, NR_148482.1:n.1152C>A, NR_148485.2:n.827C>A, NR_148485.1:n.844C>A, NR_148484.2:n.820C>A, NR_148484.1:n.837C>A, NM_001353645.1:c.710C>A, NM_001353650.1:c.698C>A, NM_001353647.1:c.710C>A, NR_148491.1:n.1160C>A, NM_001353646.1:c.710C>A, NM_001353649.1:c.698C>A, NR_148486.1:n.1094C>A, NR_148487.1:n.1055C>A, NR_148492.1:n.1032C>A, NR_148489.1:n.956C>A, NR_148493.1:n.954C>A, NR_148496.1:n.933C>A, NR_148488.1:n.902C>A, NR_148490.1:n.826C>A, NR_148494.1:n.742C>A, NR_148495.1:n.630C>A, XM_011534845.3:c.923C>A, XM_011534845.2:c.923C>A, XM_011534845.1:c.923C>A, XM_011534844.2:c.1103C>A, XM_011534844.1:c.1103C>A, XM_024449401.2:c.710C>A, XM_024449401.1:c.710C>A, XM_047430548.1:c.710C>A, NP_075387.1:p.Ala438Asp, NP_542418.1:p.Ala405Asp, NP_001340577.1:p.Ala237Asp, NP_001340573.1:p.Ala237Asp, NP_001340574.1:p.Ala237Asp, NP_001340579.1:p.Ala233Asp, NP_001340576.1:p.Ala237Asp, NP_001340575.1:p.Ala237Asp, NP_001340578.1:p.Ala233Asp, XP_011533147.1:p.Ala308Asp, XP_011533146.1:p.Ala368Asp, XP_024305169.1:p.Ala237Asp, XP_047286504.1:p.Ala237Asp

Select item 14789572217.

rs1478957221 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 13:114291740 (GRCh38)
13:115057215 (GRCh37)
Canonical SPDI:: NC_000013.11:114291739:A:C
Gene:: UPF3A (Varview), LOC124903222 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,coding_sequence_variant,upstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.114291740A>C, NC_000013.10:g.115057215A>C, NG_029528.1:g.15157A>C, NM_023011.4:c.794A>C, NM_023011.3:c.794A>C, NM_080687.3:c.695A>C, NM_080687.2:c.695A>C, NM_001353648.2:c.191A>C, NM_001353648.1:c.191A>C, NM_001353644.2:c.191A>C, NM_001353644.1:c.191A>C, NR_148482.2:n.777A>C, NR_148482.1:n.794A>C, NR_148485.2:n.627A>C, NR_148485.1:n.644A>C, NM_001353645.1:c.191A>C, NM_001353650.1:c.191A>C, NM_001353647.1:c.191A>C, NR_148491.1:n.641A>C, NM_001353646.1:c.191A>C, NM_001353649.1:c.191A>C, NR_148486.1:n.575A>C, NR_148487.1:n.697A>C, NR_148492.1:n.674A>C, NR_148489.1:n.598A>C, NR_148493.1:n.435A>C, NR_148496.1:n.575A>C, NR_148490.1:n.468A>C, NR_148494.1:n.542A>C, XM_011534845.3:c.404A>C, XM_011534845.2:c.404A>C, XM_011534845.1:c.404A>C, XM_011534844.2:c.584A>C, XM_011534844.1:c.584A>C, XM_024449401.2:c.191A>C, XM_024449401.1:c.191A>C, XM_011534846.2:c.794A>C, XM_011534846.1:c.794A>C, XM_024449402.2:c.771A>C, XM_024449402.1:c.771A>C, XM_024449403.2:c.*107A>C, XM_047430548.1:c.191A>C, XM_047430546.1:c.794A>C, XM_047430549.1:c.695A>C, NP_075387.1:p.Lys265Thr, NP_542418.1:p.Lys232Thr, NP_001340577.1:p.Lys64Thr, NP_001340573.1:p.Lys64Thr, NP_001340574.1:p.Lys64Thr, NP_001340579.1:p.Lys64Thr, NP_001340576.1:p.Lys64Thr, NP_001340575.1:p.Lys64Thr, NP_001340578.1:p.Lys64Thr, XP_011533147.1:p.Lys135Thr, XP_011533146.1:p.Lys195Thr, XP_024305169.1:p.Lys64Thr, XP_011533148.1:p.Lys265Thr, XP_024305170.1:p.Lys257Asn, XP_047286504.1:p.Lys64Thr, XP_047286502.1:p.Lys265Thr, XP_047286505.1:p.Lys232Thr

Select item 14703995608.

rs1470399560 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:114304792 (GRCh38)
13:115070267 (GRCh37)
Canonical SPDI:: NC_000013.11:114304791:C:T
Gene:: UPF3A (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000248/4 (TOMMO)
HGVS:: NC_000013.11:g.114304792C>T, NC_000013.10:g.115070267C>T, NG_029528.1:g.28209C>T, NM_023011.4:c.1306C>T, NM_023011.3:c.1306C>T, NM_080687.3:c.1207C>T, NM_080687.2:c.1207C>T, NM_001353648.2:c.703C>T, NM_001353648.1:c.703C>T, NM_001353644.2:c.703C>T, NM_001353644.1:c.703C>T, NR_148482.2:n.1128C>T, NR_148482.1:n.1145C>T, NR_148485.2:n.820C>T, NR_148485.1:n.837C>T, NR_148484.2:n.813C>T, NR_148484.1:n.830C>T, NM_001353645.1:c.703C>T, NM_001353650.1:c.691C>T, NM_001353647.1:c.703C>T, NR_148491.1:n.1153C>T, NM_001353646.1:c.703C>T, NM_001353649.1:c.691C>T, NR_148486.1:n.1087C>T, NR_148487.1:n.1048C>T, NR_148492.1:n.1025C>T, NR_148489.1:n.949C>T, NR_148493.1:n.947C>T, NR_148496.1:n.926C>T, NR_148488.1:n.895C>T, NR_148490.1:n.819C>T, NR_148494.1:n.735C>T, NR_148495.1:n.623C>T, XM_011534845.3:c.916C>T, XM_011534845.2:c.916C>T, XM_011534845.1:c.916C>T, XM_011534844.2:c.1096C>T, XM_011534844.1:c.1096C>T, XM_024449401.2:c.703C>T, XM_024449401.1:c.703C>T, XM_047430548.1:c.703C>T, NP_075387.1:p.Arg436Trp, NP_542418.1:p.Arg403Trp, NP_001340577.1:p.Arg235Trp, NP_001340573.1:p.Arg235Trp, NP_001340574.1:p.Arg235Trp, NP_001340579.1:p.Arg231Trp, NP_001340576.1:p.Arg235Trp, NP_001340575.1:p.Arg235Trp, NP_001340578.1:p.Arg231Trp, XP_011533147.1:p.Arg306Trp, XP_011533146.1:p.Arg366Trp, XP_024305169.1:p.Arg235Trp, XP_047286504.1:p.Arg235Trp

Select item 14703504929.

rs1470350492 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:114301806 (GRCh38)
13:115067281 (GRCh37)
Canonical SPDI:: NC_000013.11:114301805:C:T
Gene:: UPF3A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
HGVS:: NC_000013.11:g.114301806C>T, NC_000013.10:g.115067281C>T, NG_029528.1:g.25223C>T, NM_023011.4:c.1083C>T, NM_023011.3:c.1083C>T, NM_080687.3:c.984C>T, NM_080687.2:c.984C>T, NM_001353648.2:c.480C>T, NM_001353648.1:c.480C>T, NM_001353644.2:c.480C>T, NM_001353644.1:c.480C>T, NR_148482.2:n.905C>T, NR_148482.1:n.922C>T, NR_148485.2:n.755C>T, NR_148485.1:n.772C>T, NR_148484.2:n.590C>T, NR_148484.1:n.607C>T, NM_001353645.1:c.480C>T, NM_001353650.1:c.468C>T, NM_001353647.1:c.480C>T, NR_148491.1:n.930C>T, NM_001353646.1:c.480C>T, NM_001353649.1:c.468C>T, NR_148486.1:n.864C>T, NR_148487.1:n.825C>T, NR_148492.1:n.802C>T, NR_148489.1:n.726C>T, NR_148493.1:n.724C>T, NR_148496.1:n.703C>T, NR_148488.1:n.672C>T, NR_148490.1:n.596C>T, NR_148494.1:n.670C>T, NR_148495.1:n.400C>T, XM_011534845.3:c.693C>T, XM_011534845.2:c.693C>T, XM_011534845.1:c.693C>T, XM_011534844.2:c.873C>T, XM_011534844.1:c.873C>T, XM_024449401.2:c.480C>T, XM_024449401.1:c.480C>T, XM_047430548.1:c.480C>T, XM_047430546.1:c.*58C>T, XM_047430549.1:c.*58C>T

Select item 146769236910.

rs1467692369 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGGCC [Show Flanks]
Chromosome:: 13:114301896 (GRCh38)
13:115067372 (GRCh37)
Canonical SPDI:: NC_000013.11:114301896:CCTGGCC:CCTGGCCTGGCC
Gene:: UPF3A (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCTGGCCTGGCC=0./0 (ALFA)
CCTGG=0.000004/1 (TOPMED)
CCTGG=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.114301899_114301903dup, NC_000013.10:g.115067374_115067378dup, NG_029528.1:g.25316_25320dup, NM_023011.4:c.1176_1180dup, NM_023011.3:c.1176_1180dup, NM_080687.3:c.1077_1081dup, NM_080687.2:c.1077_1081dup, NM_001353648.2:c.573_577dup, NM_001353648.1:c.573_577dup, NM_001353644.2:c.573_577dup, NM_001353644.1:c.573_577dup, NR_148482.2:n.998_1002dup, NR_148482.1:n.1015_1019dup, NR_148484.2:n.683_687dup, NR_148484.1:n.700_704dup, NM_001353645.1:c.573_577dup, NM_001353650.1:c.561_565dup, NM_001353647.1:c.573_577dup, NR_148491.1:n.1023_1027dup, NM_001353646.1:c.573_577dup, NM_001353649.1:c.561_565dup, NR_148486.1:n.957_961dup, NR_148487.1:n.918_922dup, NR_148492.1:n.895_899dup, NR_148489.1:n.819_823dup, NR_148493.1:n.817_821dup, NR_148496.1:n.796_800dup, NR_148488.1:n.765_769dup, NR_148490.1:n.689_693dup, NR_148495.1:n.493_497dup, XM_011534845.3:c.786_790dup, XM_011534845.2:c.786_790dup, XM_011534845.1:c.786_790dup, XM_011534844.2:c.966_970dup, XM_011534844.1:c.966_970dup, XM_024449401.2:c.573_577dup, XM_024449401.1:c.573_577dup, XM_047430548.1:c.573_577dup, XM_047430546.1:c.*151_*155dup, XM_047430549.1:c.*151_*155dup, NP_075387.1:p.Gln394fs, NP_542418.1:p.Gln361fs, NP_001340577.1:p.Gln193fs, NP_001340573.1:p.Gln193fs, NP_001340574.1:p.Gln193fs, NP_001340579.1:p.Gln189fs, NP_001340576.1:p.Gln193fs, NP_001340575.1:p.Gln193fs, NP_001340578.1:p.Gln189fs, XP_011533147.1:p.Gln264fs, XP_011533146.1:p.Gln324fs, XP_024305169.1:p.Gln193fs, XP_047286504.1:p.Gln193fs

Select item 146718702511.

rs1467187025 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:114291695 (GRCh38)
13:115057170 (GRCh37)
Canonical SPDI:: NC_000013.11:114291694:G:A
Gene:: UPF3A (Varview), LOC124903222 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,synonymous_variant,non_coding_transcript_variant,missense_variant,3_prime_UTR_variant,upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000013.11:g.114291695G>A, NC_000013.10:g.115057170G>A, NG_029528.1:g.15112G>A, NM_023011.4:c.749G>A, NM_023011.3:c.749G>A, NM_080687.3:c.650G>A, NM_080687.2:c.650G>A, NM_001353648.2:c.146G>A, NM_001353648.1:c.146G>A, NM_001353644.2:c.146G>A, NM_001353644.1:c.146G>A, NR_148482.2:n.732G>A, NR_148482.1:n.749G>A, NR_148485.2:n.582G>A, NR_148485.1:n.599G>A, NM_001353645.1:c.146G>A, NM_001353650.1:c.146G>A, NM_001353647.1:c.146G>A, NR_148491.1:n.596G>A, NM_001353646.1:c.146G>A, NM_001353649.1:c.146G>A, NR_148486.1:n.530G>A, NR_148487.1:n.652G>A, NR_148492.1:n.629G>A, NR_148489.1:n.553G>A, NR_148493.1:n.390G>A, NR_148496.1:n.530G>A, NR_148490.1:n.423G>A, NR_148494.1:n.497G>A, XM_011534845.3:c.359G>A, XM_011534845.2:c.359G>A, XM_011534845.1:c.359G>A, XM_011534844.2:c.539G>A, XM_011534844.1:c.539G>A, XM_024449401.2:c.146G>A, XM_024449401.1:c.146G>A, XM_011534846.2:c.749G>A, XM_011534846.1:c.749G>A, XM_024449402.2:c.726G>A, XM_024449402.1:c.726G>A, XM_024449403.2:c.*62G>A, XM_024449403.1:c.*62G>A, XM_047430548.1:c.146G>A, XM_047430546.1:c.749G>A, XM_047430549.1:c.650G>A, NP_075387.1:p.Arg250Gln, NP_542418.1:p.Arg217Gln, NP_001340577.1:p.Arg49Gln, NP_001340573.1:p.Arg49Gln, NP_001340574.1:p.Arg49Gln, NP_001340579.1:p.Arg49Gln, NP_001340576.1:p.Arg49Gln, NP_001340575.1:p.Arg49Gln, NP_001340578.1:p.Arg49Gln, XP_011533147.1:p.Arg120Gln, XP_011533146.1:p.Arg180Gln, XP_024305169.1:p.Arg49Gln, XP_011533148.1:p.Arg250Gln, XP_047286504.1:p.Arg49Gln, XP_047286502.1:p.Arg250Gln, XP_047286505.1:p.Arg217Gln

Select item 146452546312.

rs1464525463 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:114298905 (GRCh38)
13:115064380 (GRCh37)
Canonical SPDI:: NC_000013.11:114298904:G:A
Gene:: UPF3A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.114298905G>A, NC_000013.10:g.115064380G>A, NG_029528.1:g.22322G>A, NM_023011.4:c.912G>A, NM_023011.3:c.912G>A, NM_080687.3:c.813G>A, NM_080687.2:c.813G>A, NM_001353648.2:c.309G>A, NM_001353648.1:c.309G>A, NM_001353644.2:c.309G>A, NM_001353644.1:c.309G>A, NR_148484.2:n.419G>A, NR_148484.1:n.436G>A, NM_001353645.1:c.309G>A, NM_001353650.1:c.297G>A, NM_001353647.1:c.309G>A, NR_148491.1:n.759G>A, NM_001353646.1:c.309G>A, NM_001353649.1:c.297G>A, NR_148486.1:n.693G>A, NR_148493.1:n.553G>A, NR_148488.1:n.501G>A, XM_011534845.3:c.522G>A, XM_011534845.2:c.522G>A, XM_011534845.1:c.522G>A, XM_011534844.2:c.702G>A, XM_011534844.1:c.702G>A, XM_024449401.2:c.309G>A, XM_024449401.1:c.309G>A, XM_047430548.1:c.309G>A

Select item 146046157913.

rs1460461579 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:114291710 (GRCh38)
13:115057185 (GRCh37)
Canonical SPDI:: NC_000013.11:114291709:G:A
Gene:: UPF3A (Varview), LOC124903222 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,synonymous_variant,non_coding_transcript_variant,missense_variant,3_prime_UTR_variant,upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.114291710G>A, NC_000013.10:g.115057185G>A, NG_029528.1:g.15127G>A, NM_023011.4:c.764G>A, NM_023011.3:c.764G>A, NM_080687.3:c.665G>A, NM_080687.2:c.665G>A, NM_001353648.2:c.161G>A, NM_001353648.1:c.161G>A, NM_001353644.2:c.161G>A, NM_001353644.1:c.161G>A, NR_148482.2:n.747G>A, NR_148482.1:n.764G>A, NR_148485.2:n.597G>A, NR_148485.1:n.614G>A, NM_001353645.1:c.161G>A, NM_001353650.1:c.161G>A, NM_001353647.1:c.161G>A, NR_148491.1:n.611G>A, NM_001353646.1:c.161G>A, NM_001353649.1:c.161G>A, NR_148486.1:n.545G>A, NR_148487.1:n.667G>A, NR_148492.1:n.644G>A, NR_148489.1:n.568G>A, NR_148493.1:n.405G>A, NR_148496.1:n.545G>A, NR_148490.1:n.438G>A, NR_148494.1:n.512G>A, XM_011534845.3:c.374G>A, XM_011534845.2:c.374G>A, XM_011534845.1:c.374G>A, XM_011534844.2:c.554G>A, XM_011534844.1:c.554G>A, XM_024449401.2:c.161G>A, XM_024449401.1:c.161G>A, XM_011534846.2:c.764G>A, XM_011534846.1:c.764G>A, XM_024449402.2:c.741G>A, XM_024449402.1:c.741G>A, XM_024449403.2:c.*77G>A, XM_024449403.1:c.*77G>A, XM_047430548.1:c.161G>A, XM_047430546.1:c.764G>A, XM_047430549.1:c.665G>A, NP_075387.1:p.Arg255Lys, NP_542418.1:p.Arg222Lys, NP_001340577.1:p.Arg54Lys, NP_001340573.1:p.Arg54Lys, NP_001340574.1:p.Arg54Lys, NP_001340579.1:p.Arg54Lys, NP_001340576.1:p.Arg54Lys, NP_001340575.1:p.Arg54Lys, NP_001340578.1:p.Arg54Lys, XP_011533147.1:p.Arg125Lys, XP_011533146.1:p.Arg185Lys, XP_024305169.1:p.Arg54Lys, XP_011533148.1:p.Arg255Lys, XP_047286504.1:p.Arg54Lys, XP_047286502.1:p.Arg255Lys, XP_047286505.1:p.Arg222Lys

Select item 144990648214.

rs1449906482 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:114304807 (GRCh38)
13:115070282 (GRCh37)
Canonical SPDI:: NC_000013.11:114304806:C:T
Gene:: UPF3A (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.114304807C>T, NC_000013.10:g.115070282C>T, NG_029528.1:g.28224C>T, NM_023011.4:c.1321C>T, NM_023011.3:c.1321C>T, NM_080687.3:c.1222C>T, NM_080687.2:c.1222C>T, NM_001353648.2:c.718C>T, NM_001353648.1:c.718C>T, NM_001353644.2:c.718C>T, NM_001353644.1:c.718C>T, NR_148482.2:n.1143C>T, NR_148482.1:n.1160C>T, NR_148485.2:n.835C>T, NR_148485.1:n.852C>T, NR_148484.2:n.828C>T, NR_148484.1:n.845C>T, NM_001353645.1:c.718C>T, NM_001353650.1:c.706C>T, NM_001353647.1:c.718C>T, NR_148491.1:n.1168C>T, NM_001353646.1:c.718C>T, NM_001353649.1:c.706C>T, NR_148486.1:n.1102C>T, NR_148487.1:n.1063C>T, NR_148492.1:n.1040C>T, NR_148489.1:n.964C>T, NR_148493.1:n.962C>T, NR_148496.1:n.941C>T, NR_148488.1:n.910C>T, NR_148490.1:n.834C>T, NR_148494.1:n.750C>T, NR_148495.1:n.638C>T, XM_011534845.3:c.931C>T, XM_011534845.2:c.931C>T, XM_011534845.1:c.931C>T, XM_011534844.2:c.1111C>T, XM_011534844.1:c.1111C>T, XM_024449401.2:c.718C>T, XM_024449401.1:c.718C>T, XM_047430548.1:c.718C>T

Select item 144790806815.

rs1447908068 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 13:114301771 (GRCh38)
13:115067246 (GRCh37)
Canonical SPDI:: NC_000013.11:114301770:A:T
Gene:: UPF3A (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,stop_gained,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.114301771A>T, NC_000013.10:g.115067246A>T, NG_029528.1:g.25188A>T, NM_023011.4:c.1048A>T, NM_023011.3:c.1048A>T, NM_080687.3:c.949A>T, NM_080687.2:c.949A>T, NM_001353648.2:c.445A>T, NM_001353648.1:c.445A>T, NM_001353644.2:c.445A>T, NM_001353644.1:c.445A>T, NR_148482.2:n.870A>T, NR_148482.1:n.887A>T, NR_148485.2:n.720A>T, NR_148485.1:n.737A>T, NR_148484.2:n.555A>T, NR_148484.1:n.572A>T, NM_001353645.1:c.445A>T, NM_001353650.1:c.433A>T, NM_001353647.1:c.445A>T, NR_148491.1:n.895A>T, NM_001353646.1:c.445A>T, NM_001353649.1:c.433A>T, NR_148486.1:n.829A>T, NR_148487.1:n.790A>T, NR_148492.1:n.767A>T, NR_148489.1:n.691A>T, NR_148493.1:n.689A>T, NR_148496.1:n.668A>T, NR_148488.1:n.637A>T, NR_148490.1:n.561A>T, NR_148494.1:n.635A>T, NR_148495.1:n.365A>T, XM_011534845.3:c.658A>T, XM_011534845.2:c.658A>T, XM_011534845.1:c.658A>T, XM_011534844.2:c.838A>T, XM_011534844.1:c.838A>T, XM_024449401.2:c.445A>T, XM_024449401.1:c.445A>T, XM_047430548.1:c.445A>T, XM_047430546.1:c.*23A>T, XM_047430549.1:c.*23A>T, NP_075387.1:p.Arg350Ter, NP_542418.1:p.Arg317Ter, NP_001340577.1:p.Arg149Ter, NP_001340573.1:p.Arg149Ter, NP_001340574.1:p.Arg149Ter, NP_001340579.1:p.Arg145Ter, NP_001340576.1:p.Arg149Ter, NP_001340575.1:p.Arg149Ter, NP_001340578.1:p.Arg145Ter, XP_011533147.1:p.Arg220Ter, XP_011533146.1:p.Arg280Ter, XP_024305169.1:p.Arg149Ter, XP_047286504.1:p.Arg149Ter

Select item 144339181616.

rs1443391816 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:114304819 (GRCh38)
13:115070294 (GRCh37)
Canonical SPDI:: NC_000013.11:114304818:G:A
Gene:: UPF3A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000013.11:g.114304819G>A, NC_000013.10:g.115070294G>A, NG_029528.1:g.28236G>A, NM_023011.4:c.1333G>A, NM_023011.3:c.1333G>A, NM_080687.3:c.1234G>A, NM_080687.2:c.1234G>A, NM_001353648.2:c.730G>A, NM_001353648.1:c.730G>A, NM_001353644.2:c.730G>A, NM_001353644.1:c.730G>A, NR_148482.2:n.1155G>A, NR_148482.1:n.1172G>A, NR_148485.2:n.847G>A, NR_148485.1:n.864G>A, NR_148484.2:n.840G>A, NR_148484.1:n.857G>A, NM_001353645.1:c.730G>A, NM_001353650.1:c.718G>A, NM_001353647.1:c.730G>A, NR_148491.1:n.1180G>A, NM_001353646.1:c.730G>A, NM_001353649.1:c.718G>A, NR_148486.1:n.1114G>A, NR_148487.1:n.1075G>A, NR_148492.1:n.1052G>A, NR_148489.1:n.976G>A, NR_148493.1:n.974G>A, NR_148496.1:n.953G>A, NR_148488.1:n.922G>A, NR_148490.1:n.846G>A, NR_148494.1:n.762G>A, NR_148495.1:n.650G>A, XM_011534845.3:c.943G>A, XM_011534845.2:c.943G>A, XM_011534845.1:c.943G>A, XM_011534844.2:c.1123G>A, XM_011534844.1:c.1123G>A, XM_024449401.2:c.730G>A, XM_024449401.1:c.730G>A, XM_047430548.1:c.730G>A, NP_075387.1:p.Gly445Arg, NP_542418.1:p.Gly412Arg, NP_001340577.1:p.Gly244Arg, NP_001340573.1:p.Gly244Arg, NP_001340574.1:p.Gly244Arg, NP_001340579.1:p.Gly240Arg, NP_001340576.1:p.Gly244Arg, NP_001340575.1:p.Gly244Arg, NP_001340578.1:p.Gly240Arg, XP_011533147.1:p.Gly315Arg, XP_011533146.1:p.Gly375Arg, XP_024305169.1:p.Gly244Arg, XP_047286504.1:p.Gly244Arg

Select item 144338819717.

rs1443388197 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:114291530 (GRCh38)
13:115057005 (GRCh37)
Canonical SPDI:: NC_000013.11:114291529:A:G
Gene:: UPF3A (Varview), LOC124903222 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,non_coding_transcript_variant,intron_variant,missense_variant,genic_downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.114291530A>G, NC_000013.10:g.115057005A>G, NG_029528.1:g.14947A>G, NM_023011.4:c.673A>G, NM_023011.3:c.673A>G, NM_080687.3:c.574A>G, NM_080687.2:c.574A>G, NM_001353648.2:c.70A>G, NM_001353648.1:c.70A>G, NM_001353644.2:c.70A>G, NM_001353644.1:c.70A>G, NR_148485.2:n.506A>G, NR_148485.1:n.523A>G, NM_001353645.1:c.70A>G, NM_001353650.1:c.70A>G, NM_001353647.1:c.70A>G, NM_001353646.1:c.70A>G, NM_001353649.1:c.70A>G, NR_148487.1:n.576A>G, NR_148489.1:n.477A>G, XM_011534845.3:c.283A>G, XM_011534845.2:c.283A>G, XM_011534845.1:c.283A>G, XM_011534844.2:c.463A>G, XM_011534844.1:c.463A>G, XM_024449401.2:c.70A>G, XM_024449401.1:c.70A>G, XM_011534846.2:c.673A>G, XM_011534846.1:c.673A>G, XM_047430548.1:c.70A>G, XM_047430546.1:c.673A>G, XM_047430549.1:c.574A>G, NP_075387.1:p.Lys225Glu, NP_542418.1:p.Lys192Glu, NP_001340577.1:p.Lys24Glu, NP_001340573.1:p.Lys24Glu, NP_001340574.1:p.Lys24Glu, NP_001340579.1:p.Lys24Glu, NP_001340576.1:p.Lys24Glu, NP_001340575.1:p.Lys24Glu, NP_001340578.1:p.Lys24Glu, XP_011533147.1:p.Lys95Glu, XP_011533146.1:p.Lys155Glu, XP_024305169.1:p.Lys24Glu, XP_011533148.1:p.Lys225Glu, XP_047286504.1:p.Lys24Glu, XP_047286502.1:p.Lys225Glu, XP_047286505.1:p.Lys192Glu

Select item 144332122118.

rs1443321221 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 13:114298923 (GRCh38)
13:115064398 (GRCh37)
Canonical SPDI:: NC_000013.11:114298922:C:G
Gene:: UPF3A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.114298923C>G, NC_000013.10:g.115064398C>G, NG_029528.1:g.22340C>G, NM_023011.4:c.930C>G, NM_023011.3:c.930C>G, NM_080687.3:c.831C>G, NM_080687.2:c.831C>G, NM_001353648.2:c.327C>G, NM_001353648.1:c.327C>G, NM_001353644.2:c.327C>G, NM_001353644.1:c.327C>G, NR_148484.2:n.437C>G, NR_148484.1:n.454C>G, NM_001353645.1:c.327C>G, NM_001353650.1:c.315C>G, NM_001353647.1:c.327C>G, NR_148491.1:n.777C>G, NM_001353646.1:c.327C>G, NM_001353649.1:c.315C>G, NR_148486.1:n.711C>G, NR_148493.1:n.571C>G, NR_148488.1:n.519C>G, XM_011534845.3:c.540C>G, XM_011534845.2:c.540C>G, XM_011534845.1:c.540C>G, XM_011534844.2:c.720C>G, XM_011534844.1:c.720C>G, XM_024449401.2:c.327C>G, XM_024449401.1:c.327C>G, XM_047430548.1:c.327C>G

Select item 143906317319.

rs1439063173 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:114298979 (GRCh38)
13:115064454 (GRCh37)
Canonical SPDI:: NC_000013.11:114298978:C:T
Gene:: UPF3A (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.114298979C>T, NC_000013.10:g.115064454C>T, NG_029528.1:g.22396C>T, NM_023011.4:c.986C>T, NM_023011.3:c.986C>T, NM_080687.3:c.887C>T, NM_080687.2:c.887C>T, NM_001353648.2:c.383C>T, NM_001353648.1:c.383C>T, NM_001353644.2:c.383C>T, NM_001353644.1:c.383C>T, NR_148484.2:n.493C>T, NR_148484.1:n.510C>T, NM_001353645.1:c.383C>T, NM_001353650.1:c.371C>T, NM_001353647.1:c.383C>T, NR_148491.1:n.833C>T, NM_001353646.1:c.383C>T, NM_001353649.1:c.371C>T, NR_148486.1:n.767C>T, NR_148493.1:n.627C>T, NR_148488.1:n.575C>T, XM_011534845.3:c.596C>T, XM_011534845.2:c.596C>T, XM_011534845.1:c.596C>T, XM_011534844.2:c.776C>T, XM_011534844.1:c.776C>T, XM_024449401.2:c.383C>T, XM_024449401.1:c.383C>T, XM_047430548.1:c.383C>T, NP_075387.1:p.Ser329Leu, NP_542418.1:p.Ser296Leu, NP_001340577.1:p.Ser128Leu, NP_001340573.1:p.Ser128Leu, NP_001340574.1:p.Ser128Leu, NP_001340579.1:p.Ser124Leu, NP_001340576.1:p.Ser128Leu, NP_001340575.1:p.Ser128Leu, NP_001340578.1:p.Ser124Leu, XP_011533147.1:p.Ser199Leu, XP_011533146.1:p.Ser259Leu, XP_024305169.1:p.Ser128Leu, XP_047286504.1:p.Ser128Leu

Select item 143050605820.

rs1430506058 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:114298842 (GRCh38)
13:115064317 (GRCh37)
Canonical SPDI:: NC_000013.11:114298841:T:C
Gene:: UPF3A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.114298842T>C, NC_000013.10:g.115064317T>C, NG_029528.1:g.22259T>C, NM_023011.4:c.849T>C, NM_023011.3:c.849T>C, NM_080687.3:c.750T>C, NM_080687.2:c.750T>C, NM_001353648.2:c.246T>C, NM_001353648.1:c.246T>C, NM_001353644.2:c.246T>C, NM_001353644.1:c.246T>C, NR_148484.2:n.356T>C, NR_148484.1:n.373T>C, NM_001353645.1:c.246T>C, NM_001353650.1:c.234T>C, NM_001353647.1:c.246T>C, NR_148491.1:n.696T>C, NM_001353646.1:c.246T>C, NM_001353649.1:c.234T>C, NR_148486.1:n.630T>C, NR_148493.1:n.490T>C, NR_148488.1:n.438T>C, XM_011534845.3:c.459T>C, XM_011534845.2:c.459T>C, XM_011534845.1:c.459T>C, XM_011534844.2:c.639T>C, XM_011534844.1:c.639T>C, XM_024449401.2:c.246T>C, XM_024449401.1:c.246T>C, XM_047430548.1:c.246T>C

<< First< Prev

Page of 16

Next >Last >>

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 316

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity