SNP Links for Protein (Select 44771198) - SNP

Links from Protein

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Select item 14906452771.

rs1490645277 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGACC>- [Show Flanks]
Chromosome:: 11:20508366 (GRCh38)
11:20529912 (GRCh37)
Canonical SPDI:: NC_000011.10:20508362:ACCGTGACC:ACC
Gene:: PRMT3 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,inframe_deletion
Validated:: by frequency,by alfa
MAF:: ACC=0./0 (ALFA)
HGVS:: NC_000011.10:g.20508366_20508371del, NC_000011.9:g.20529912_20529917del, NM_005788.4:c.1549_1554del, NM_005788.3:c.1549_1554del, XM_011519836.3:c.1234_1239del, XM_011519836.2:c.1234_1239del, XM_011519836.1:c.1234_1239del, NM_001145167.2:c.1318_1323del, NM_001145167.1:c.1318_1323del, NM_001145166.2:c.1363_1368del, NM_001145166.1:c.1363_1368del, XM_047426227.1:c.1450_1455del, NP_005779.1:p.Val517_Thr518del, XP_011518138.1:p.Val412_Thr413del, NP_001138639.1:p.Val440_Thr441del, NP_001138638.1:p.Val455_Thr456del, XP_047282183.1:p.Val484_Thr485del

Select item 14856351712.

rs1485635171 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:20508389 (GRCh38)
11:20529935 (GRCh37)
Canonical SPDI:: NC_000011.10:20508388:A:C
Gene:: PRMT3 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000011.10:g.20508389A>C, NC_000011.9:g.20529935A>C, NM_005788.4:c.1572A>C, NM_005788.3:c.1572A>C, XM_011519836.3:c.1257A>C, XM_011519836.2:c.1257A>C, XM_011519836.1:c.1257A>C, NM_001145167.2:c.1341A>C, NM_001145167.1:c.1341A>C, NM_001145166.2:c.1386A>C, NM_001145166.1:c.1386A>C, XM_047426227.1:c.1473A>C

Select item 14852733833.

rs1485273383 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 11:20452152 (GRCh38)
11:20473699 (GRCh37)
Canonical SPDI:: NC_000011.10:20452152:T:TT
Gene:: PRMT3 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.20452153dup, NC_000011.9:g.20473699dup, NM_005788.4:c.1017dup, NM_005788.3:c.1017dup, XM_011519836.3:c.702dup, XM_011519836.2:c.702dup, XM_011519836.1:c.702dup, NM_001145167.2:c.786dup, NM_001145167.1:c.786dup, NM_001145166.2:c.831dup, NM_001145166.1:c.831dup, XM_047426227.1:c.918dup, XM_047426228.1:c.917dup, NP_005779.1:p.Met340fs, XP_011518138.1:p.Met235fs, NP_001138639.1:p.Met263fs, NP_001138638.1:p.Met278fs, XP_047282183.1:p.Met307fs, XP_047282184.1:p.Cys307fs

Select item 14835510294.

rs1483551029 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 11:20452192 (GRCh38)
11:20473738 (GRCh37)
Canonical SPDI:: NC_000011.10:20452191:GG:G
Gene:: PRMT3 (Varview)
Functional Consequence:: frameshift_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.20452193del, NC_000011.9:g.20473739del, NM_005788.4:c.1057del, NM_005788.3:c.1057del, XM_011519836.3:c.742del, XM_011519836.2:c.742del, XM_011519836.1:c.742del, NM_001145167.2:c.826del, NM_001145167.1:c.826del, NM_001145166.2:c.871del, NM_001145166.1:c.871del, XM_047426227.1:c.958del, XM_047426228.1:c.*33del, NP_005779.1:p.Ala353fs, XP_011518138.1:p.Ala248fs, NP_001138639.1:p.Ala276fs, NP_001138638.1:p.Ala291fs, XP_047282183.1:p.Ala320fs

Select item 14829953735.

rs1482995373 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:20392228 (GRCh38)
11:20413774 (GRCh37)
Canonical SPDI:: NC_000011.10:20392227:T:A
Gene:: PRMT3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.20392228T>A, NC_000011.9:g.20413774T>A, NM_005788.4:c.265T>A, NM_005788.3:c.265T>A, NM_001145167.2:c.34T>A, NM_001145167.1:c.34T>A, XM_047426228.1:c.265T>A, NP_005779.1:p.Tyr89Asn, NP_001138639.1:p.Tyr12Asn, XP_047282184.1:p.Tyr89Asn

Select item 14823749306.

rs1482374930 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:20392926 (GRCh38)
11:20414472 (GRCh37)
Canonical SPDI:: NC_000011.10:20392925:A:G
Gene:: PRMT3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.20392926A>G, NC_000011.9:g.20414472A>G, NM_005788.4:c.327A>G, NM_005788.3:c.327A>G, XM_011519836.3:c.12A>G, XM_011519836.2:c.12A>G, XM_011519836.1:c.12A>G, NM_001145167.2:c.96A>G, NM_001145167.1:c.96A>G, NM_001145166.2:c.141A>G, NM_001145166.1:c.141A>G, XM_047426227.1:c.228A>G, XM_047426228.1:c.327A>G, NP_005779.1:p.Ile109Met, XP_011518138.1:p.Ile4Met, NP_001138639.1:p.Ile32Met, NP_001138638.1:p.Ile47Met, XP_047282183.1:p.Ile76Met, XP_047282184.1:p.Ile109Met

Select item 14812005907.

rs1481200590 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 11:20408030 (GRCh38)
11:20429576 (GRCh37)
Canonical SPDI:: NC_000011.10:20408029:AA:A
Gene:: PRMT3 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000015/4 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.20408031del, NC_000011.9:g.20429577del, NM_005788.4:c.892del, NM_005788.3:c.892del, XM_011519836.3:c.577del, XM_011519836.2:c.577del, XM_011519836.1:c.577del, NM_001145167.2:c.661del, NM_001145167.1:c.661del, NM_001145166.2:c.706del, NM_001145166.1:c.706del, XM_047426227.1:c.793del, XM_047426228.1:c.892del, NP_005779.1:p.Arg298fs, XP_011518138.1:p.Arg193fs, NP_001138639.1:p.Arg221fs, NP_001138638.1:p.Arg236fs, XP_047282183.1:p.Arg265fs, XP_047282184.1:p.Arg298fs

Select item 14779657918.

rs1477965791 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:20494254 (GRCh38)
11:20515800 (GRCh37)
Canonical SPDI:: NC_000011.10:20494253:G:C
Gene:: PRMT3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.20494254G>C, NC_000011.9:g.20515800G>C, NM_005788.4:c.1486G>C, NM_005788.3:c.1486G>C, XM_011519836.3:c.1171G>C, XM_011519836.2:c.1171G>C, XM_011519836.1:c.1171G>C, NM_001145167.2:c.1255G>C, NM_001145167.1:c.1255G>C, NM_001145166.2:c.1300G>C, NM_001145166.1:c.1300G>C, XM_047426227.1:c.1387G>C, NP_005779.1:p.Gly496Arg, XP_011518138.1:p.Gly391Arg, NP_001138639.1:p.Gly419Arg, NP_001138638.1:p.Gly434Arg, XP_047282183.1:p.Gly463Arg

Select item 14771425509.

rs1477142550 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:20462108 (GRCh38)
11:20483654 (GRCh37)
Canonical SPDI:: NC_000011.10:20462107:G:T
Gene:: PRMT3 (Varview)
Functional Consequence:: stop_gained,downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0./0 (Korea1K)
T=0.00004/1 (TOMMO)
T=0.00034/1 (KOREAN)
HGVS:: NC_000011.10:g.20462108G>T, NC_000011.9:g.20483654G>T, NM_005788.4:c.1201G>T, NM_005788.3:c.1201G>T, XM_011519836.3:c.886G>T, XM_011519836.2:c.886G>T, XM_011519836.1:c.886G>T, NM_001145167.2:c.970G>T, NM_001145167.1:c.970G>T, NM_001145166.2:c.1015G>T, NM_001145166.1:c.1015G>T, XM_047426227.1:c.1102G>T, NP_005779.1:p.Glu401Ter, XP_011518138.1:p.Glu296Ter, NP_001138639.1:p.Glu324Ter, NP_001138638.1:p.Glu339Ter, XP_047282183.1:p.Glu368Ter

Select item 147619727910.

rs1476197279 has merged into rs779069393 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCT>-,CT [Show Flanks]
Chromosome:: 11:20407946 (GRCh38)
11:20429492 (GRCh37)
Canonical SPDI:: NC_000011.10:20407942:TCTCTCT:TCT,NC_000011.10:20407942:TCTCTCT:TCTCT
Gene:: PRMT3 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCT=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
-=0.000008/1 (ExAC)
-=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.20407944CT[1], NC_000011.10:g.20407944CT[2], NC_000011.9:g.20429490CT[1], NC_000011.9:g.20429490CT[2], NM_005788.4:c.807_810del, NM_005788.4:c.809_810del, NM_005788.3:c.807_810del, NM_005788.3:c.809_810del, XM_011519836.3:c.492_495del, XM_011519836.3:c.494_495del, XM_011519836.2:c.492_495del, XM_011519836.2:c.494_495del, XM_011519836.1:c.492_495del, XM_011519836.1:c.494_495del, NM_001145167.2:c.576_579del, NM_001145167.2:c.578_579del, NM_001145167.1:c.576_579del, NM_001145167.1:c.578_579del, NM_001145166.2:c.621_624del, NM_001145166.2:c.623_624del, NM_001145166.1:c.621_624del, NM_001145166.1:c.623_624del, XM_047426227.1:c.708_711del, XM_047426227.1:c.710_711del, XM_047426228.1:c.807_810del, XM_047426228.1:c.809_810del, NP_005779.1:p.Ser270fs, NP_005779.1:p.Ser270fs, XP_011518138.1:p.Ser165fs, XP_011518138.1:p.Ser165fs, NP_001138639.1:p.Ser193fs, NP_001138639.1:p.Ser193fs, NP_001138638.1:p.Ser208fs, NP_001138638.1:p.Ser208fs, XP_047282183.1:p.Ser237fs, XP_047282183.1:p.Ser237fs, XP_047282184.1:p.Ser270fs, XP_047282184.1:p.Ser270fs

Select item 146907339611.

rs1469073396 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:20402944 (GRCh38)
11:20424490 (GRCh37)
Canonical SPDI:: NC_000011.10:20402943:G:A,NC_000011.10:20402943:G:T
Gene:: PRMT3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.20402944G>A, NC_000011.10:g.20402944G>T, NC_000011.9:g.20424490G>A, NC_000011.9:g.20424490G>T, NM_005788.4:c.731G>A, NM_005788.4:c.731G>T, NM_005788.3:c.731G>A, NM_005788.3:c.731G>T, XM_011519836.3:c.416G>A, XM_011519836.3:c.416G>T, XM_011519836.2:c.416G>A, XM_011519836.2:c.416G>T, XM_011519836.1:c.416G>A, XM_011519836.1:c.416G>T, NM_001145167.2:c.500G>A, NM_001145167.2:c.500G>T, NM_001145167.1:c.500G>A, NM_001145167.1:c.500G>T, NM_001145166.2:c.545G>A, NM_001145166.2:c.545G>T, NM_001145166.1:c.545G>A, NM_001145166.1:c.545G>T, XM_047426227.1:c.632G>A, XM_047426227.1:c.632G>T, XM_047426228.1:c.731G>A, XM_047426228.1:c.731G>T, NP_005779.1:p.Arg244Gln, NP_005779.1:p.Arg244Leu, XP_011518138.1:p.Arg139Gln, XP_011518138.1:p.Arg139Leu, NP_001138639.1:p.Arg167Gln, NP_001138639.1:p.Arg167Leu, NP_001138638.1:p.Arg182Gln, NP_001138638.1:p.Arg182Leu, XP_047282183.1:p.Arg211Gln, XP_047282183.1:p.Arg211Leu, XP_047282184.1:p.Arg244Gln, XP_047282184.1:p.Arg244Leu

Select item 146591532312.

rs1465915323 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:20494236 (GRCh38)
11:20515782 (GRCh37)
Canonical SPDI:: NC_000011.10:20494235:C:A
Gene:: PRMT3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.20494236C>A, NC_000011.9:g.20515782C>A, NM_005788.4:c.1468C>A, NM_005788.3:c.1468C>A, XM_011519836.3:c.1153C>A, XM_011519836.2:c.1153C>A, XM_011519836.1:c.1153C>A, NM_001145167.2:c.1237C>A, NM_001145167.1:c.1237C>A, NM_001145166.2:c.1282C>A, NM_001145166.1:c.1282C>A, XM_047426227.1:c.1369C>A, NP_005779.1:p.Pro490Thr, XP_011518138.1:p.Pro385Thr, NP_001138639.1:p.Pro413Thr, NP_001138638.1:p.Pro428Thr, XP_047282183.1:p.Pro457Thr

Select item 146549201913.

rs1465492019 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:20388088 (GRCh38)
11:20409634 (GRCh37)
Canonical SPDI:: NC_000011.10:20388087:G:A
Gene:: PRMT3 (Varview)
Functional Consequence:: missense_variant,stop_gained,intron_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.20388088G>A, NC_000011.9:g.20409634G>A, NM_005788.4:c.98G>A, NM_005788.3:c.98G>A, XM_047426227.1:c.49G>A, XM_047426228.1:c.98G>A, NP_005779.1:p.Trp33Ter, XP_047282183.1:p.Gly17Arg, XP_047282184.1:p.Trp33Ter

Select item 146367922014.

rs1463679220 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:20397695 (GRCh38)
11:20419241 (GRCh37)
Canonical SPDI:: NC_000011.10:20397694:T:G
Gene:: PRMT3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000011.10:g.20397695T>G, NC_000011.9:g.20419241T>G, NM_005788.4:c.679T>G, NM_005788.3:c.679T>G, XM_011519836.3:c.364T>G, XM_011519836.2:c.364T>G, XM_011519836.1:c.364T>G, NM_001145167.2:c.448T>G, NM_001145167.1:c.448T>G, NM_001145166.2:c.493T>G, NM_001145166.1:c.493T>G, XM_047426227.1:c.580T>G, XM_047426228.1:c.679T>G, NP_005779.1:p.Tyr227Asp, XP_011518138.1:p.Tyr122Asp, NP_001138639.1:p.Tyr150Asp, NP_001138638.1:p.Tyr165Asp, XP_047282183.1:p.Tyr194Asp, XP_047282184.1:p.Tyr227Asp

Select item 146312926515.

rs1463129265 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:20397615 (GRCh38)
11:20419161 (GRCh37)
Canonical SPDI:: NC_000011.10:20397614:G:C
Gene:: PRMT3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.20397615G>C, NC_000011.9:g.20419161G>C, NM_005788.4:c.599G>C, NM_005788.3:c.599G>C, XM_011519836.3:c.284G>C, XM_011519836.2:c.284G>C, XM_011519836.1:c.284G>C, NM_001145167.2:c.368G>C, NM_001145167.1:c.368G>C, NM_001145166.2:c.413G>C, NM_001145166.1:c.413G>C, XM_047426227.1:c.500G>C, XM_047426228.1:c.599G>C, NP_005779.1:p.Arg200Thr, XP_011518138.1:p.Arg95Thr, NP_001138639.1:p.Arg123Thr, NP_001138638.1:p.Arg138Thr, XP_047282183.1:p.Arg167Thr, XP_047282184.1:p.Arg200Thr

Select item 146234639816.

rs1462346398 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 11:20407985 (GRCh38)
11:20429532 (GRCh37)
Canonical SPDI:: NC_000011.10:20407985:GG:GGG
Gene:: PRMT3 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: GGG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.20407987dup, NC_000011.9:g.20429533dup, NM_005788.4:c.848dup, NM_005788.3:c.848dup, XM_011519836.3:c.533dup, XM_011519836.2:c.533dup, XM_011519836.1:c.533dup, NM_001145167.2:c.617dup, NM_001145167.1:c.617dup, NM_001145166.2:c.662dup, NM_001145166.1:c.662dup, XM_047426227.1:c.749dup, XM_047426228.1:c.848dup, NP_005779.1:p.Val284fs, XP_011518138.1:p.Val179fs, NP_001138639.1:p.Val207fs, NP_001138638.1:p.Val222fs, XP_047282183.1:p.Val251fs, XP_047282184.1:p.Val284fs

Select item 146000046117.

rs1460000461 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:20493922 (GRCh38)
11:20515468 (GRCh37)
Canonical SPDI:: NC_000011.10:20493921:A:G
Gene:: PRMT3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.20493922A>G, NC_000011.9:g.20515468A>G, NM_005788.4:c.1351A>G, NM_005788.3:c.1351A>G, XM_011519836.3:c.1036A>G, XM_011519836.2:c.1036A>G, XM_011519836.1:c.1036A>G, NM_001145167.2:c.1120A>G, NM_001145167.1:c.1120A>G, NM_001145166.2:c.1165A>G, NM_001145166.1:c.1165A>G, XM_047426227.1:c.1252A>G, NP_005779.1:p.Ile451Val, XP_011518138.1:p.Ile346Val, NP_001138639.1:p.Ile374Val, NP_001138638.1:p.Ile389Val, XP_047282183.1:p.Ile418Val

Select item 145769699918.

rs1457696999 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:20392954 (GRCh38)
11:20414500 (GRCh37)
Canonical SPDI:: NC_000011.10:20392953:G:C
Gene:: PRMT3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000011.10:g.20392954G>C, NC_000011.9:g.20414500G>C, NM_005788.4:c.355G>C, NM_005788.3:c.355G>C, XM_011519836.3:c.40G>C, XM_011519836.2:c.40G>C, XM_011519836.1:c.40G>C, NM_001145167.2:c.124G>C, NM_001145167.1:c.124G>C, NM_001145166.2:c.169G>C, NM_001145166.1:c.169G>C, XM_047426227.1:c.256G>C, XM_047426228.1:c.355G>C, NP_005779.1:p.Glu119Gln, XP_011518138.1:p.Glu14Gln, NP_001138639.1:p.Glu42Gln, NP_001138638.1:p.Glu57Gln, XP_047282183.1:p.Glu86Gln, XP_047282184.1:p.Glu119Gln

Select item 145710901819.

rs1457109018 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:20388067 (GRCh38)
11:20409613 (GRCh37)
Canonical SPDI:: NC_000011.10:20388066:A:T
Gene:: PRMT3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.20388067A>T, NC_000011.9:g.20409613A>T, NM_005788.4:c.77A>T, NM_005788.3:c.77A>T, XM_047426227.1:c.28A>T, XM_047426228.1:c.77A>T, NP_005779.1:p.Asp26Val, XP_047282183.1:p.Thr10Ser, XP_047282184.1:p.Asp26Val

Select item 145685376520.

rs1456853765 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:20397621 (GRCh38)
11:20419167 (GRCh37)
Canonical SPDI:: NC_000011.10:20397620:G:A
Gene:: PRMT3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.00018/3 (TOMMO)
HGVS:: NC_000011.10:g.20397621G>A, NC_000011.9:g.20419167G>A, NM_005788.4:c.605G>A, NM_005788.3:c.605G>A, XM_011519836.3:c.290G>A, XM_011519836.2:c.290G>A, XM_011519836.1:c.290G>A, NM_001145167.2:c.374G>A, NM_001145167.1:c.374G>A, NM_001145166.2:c.419G>A, NM_001145166.1:c.419G>A, XM_047426227.1:c.506G>A, XM_047426228.1:c.605G>A, NP_005779.1:p.Cys202Tyr, XP_011518138.1:p.Cys97Tyr, NP_001138639.1:p.Cys125Tyr, NP_001138638.1:p.Cys140Tyr, XP_047282183.1:p.Cys169Tyr, XP_047282184.1:p.Cys202Tyr

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