SNP Links for Protein (Select 556695399) - SNP

Links from Protein

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Select item 14915881431.

rs1491588143 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 15:43403754 (GRCh38)
15:43695953 (GRCh37)
Canonical SPDI:: NC_000015.10:43403754::A
Gene:: TP53BP1 (Varview), TUBGCP4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
HGVS:: NC_000015.10:g.43403754_43403755insA, NC_000015.9:g.43695952_43695953insA, NG_042168.1:g.37696_37697insA, NM_014444.5:c.1803_1804insA, NM_014444.4:c.1803_1804insA, NM_014444.3:c.1803_1804insA, NM_014444.2:c.1803_1804insA, NM_001286414.3:c.1806_1807insA, NM_001286414.2:c.1806_1807insA, NM_001286414.1:c.1806_1807insA, NM_005657.4:c.*3628_*3629insT, NM_005657.3:c.*3628_*3629insT, NM_001141980.3:c.*3628_*3629insT, NM_001141980.2:c.*3628_*3629insT, NM_001141979.3:c.*3628_*3629insT, NM_001141979.2:c.*3628_*3629insT, XM_011521455.3:c.1398_1399insA, XM_011521455.2:c.1398_1399insA, XM_011521455.1:c.1398_1399insA, NM_001355001.2:c.*3628_*3629insT, NM_001355001.1:c.*3628_*3629insT, XM_047432995.1:c.*3628_*3629insT, XM_047432994.1:c.*3628_*3629insT, XM_047432996.1:c.*3628_*3629insT, NM_001411050.1:c.*3628_*3629insT, XM_047432390.1:c.1755_1756insA, XM_047432391.1:c.1752_1753insA, NP_055259.2:p.Pro602fs, NP_001273343.1:p.Pro603fs, XP_011519757.1:p.Pro467fs, XP_047288346.1:p.Pro586fs, XP_047288347.1:p.Pro585fs

Select item 14897034172.

rs1489703417 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 15:43404464 (GRCh38)
15:43696662 (GRCh37)
Canonical SPDI:: NC_000015.10:43404463:A:T
Gene:: TP53BP1 (Varview), TUBGCP4 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_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)
HGVS:: NC_000015.10:g.43404464A>T, NC_000015.9:g.43696662A>T, NG_042168.1:g.38406A>T, NM_014444.5:c.1900A>T, NM_014444.4:c.1900A>T, NM_014444.3:c.1900A>T, NM_014444.2:c.1900A>T, NM_001286414.3:c.1903A>T, NM_001286414.2:c.1903A>T, NM_001286414.1:c.1903A>T, NM_005657.4:c.*2919T>A, NM_005657.3:c.*2919T>A, XM_011521454.4:c.1786A>T, XM_011521454.3:c.1786A>T, XM_011521454.2:c.1786A>T, XM_011521454.1:c.1786A>T, NM_001141980.3:c.*2919T>A, NM_001141980.2:c.*2919T>A, NM_001141979.3:c.*2919T>A, NM_001141979.2:c.*2919T>A, XM_017022078.3:c.1783A>T, XM_017022078.2:c.1783A>T, XM_017022078.1:c.1783A>T, XM_011521455.3:c.1495A>T, XM_011521455.2:c.1495A>T, XM_011521455.1:c.1495A>T, NM_001355001.2:c.*2919T>A, NM_001355001.1:c.*2919T>A, XM_047432995.1:c.*2919T>A, XM_047432994.1:c.*2919T>A, XM_047432996.1:c.*2919T>A, NM_001411050.1:c.*2919T>A, XM_047432390.1:c.1852A>T, XM_047432391.1:c.1849A>T, NP_055259.2:p.Asn634Tyr, NP_001273343.1:p.Asn635Tyr, XP_011519756.1:p.Asn596Tyr, XP_016877567.1:p.Asn595Tyr, XP_011519757.1:p.Asn499Tyr, XP_047288346.1:p.Asn618Tyr, XP_047288347.1:p.Asn617Tyr

Select item 14866924893.

rs1486692489 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:43376190 (GRCh38)
15:43668388 (GRCh37)
Canonical SPDI:: NC_000015.10:43376189:G:C
Gene:: TUBGCP4 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
C=0.000026/7 (TOPMED)
HGVS:: NC_000015.10:g.43376190G>C, NC_000015.9:g.43668388G>C, NG_042168.1:g.10132G>C, NM_014444.5:c.171G>C, NM_014444.4:c.171G>C, NM_014444.3:c.171G>C, NM_014444.2:c.171G>C, NM_001286414.3:c.171G>C, NM_001286414.2:c.171G>C, NM_001286414.1:c.171G>C, XM_011521454.4:c.171G>C, XM_011521454.3:c.171G>C, XM_011521454.2:c.171G>C, XM_011521454.1:c.171G>C, XM_017022078.3:c.171G>C, XM_017022078.2:c.171G>C, XM_017022078.1:c.171G>C, XM_011521455.3:c.-286G>C, XM_011521455.2:c.-286G>C, XM_011521455.1:c.-286G>C, XM_047432390.1:c.171G>C, XM_047432391.1:c.171G>C, XM_047432392.1:c.171G>C, XM_047432393.1:c.171G>C, NP_055259.2:p.Glu57Asp, NP_001273343.1:p.Glu57Asp, XP_011519756.1:p.Glu57Asp, XP_016877567.1:p.Glu57Asp, XP_047288346.1:p.Glu57Asp, XP_047288347.1:p.Glu57Asp, XP_047288348.1:p.Glu57Asp, XP_047288349.1:p.Glu57Asp

Select item 14856517654.

rs1485651765 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:43385833 (GRCh38)
15:43678031 (GRCh37)
Canonical SPDI:: NC_000015.10:43385832:C:T
Gene:: TUBGCP4 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.43385833C>T, NC_000015.9:g.43678031C>T, NG_042168.1:g.19775C>T, NM_014444.5:c.766C>T, NM_014444.4:c.766C>T, NM_014444.3:c.766C>T, NM_014444.2:c.766C>T, NM_001286414.3:c.766C>T, NM_001286414.2:c.766C>T, NM_001286414.1:c.766C>T, XM_011521454.4:c.766C>T, XM_011521454.3:c.766C>T, XM_011521454.2:c.766C>T, XM_011521454.1:c.766C>T, XM_017022078.3:c.766C>T, XM_017022078.2:c.766C>T, XM_017022078.1:c.766C>T, XM_011521455.3:c.358C>T, XM_011521455.2:c.358C>T, XM_011521455.1:c.358C>T, XM_047432390.1:c.766C>T, XM_047432391.1:c.766C>T, XM_047432392.1:c.766C>T, XM_047432393.1:c.766C>T, NP_055259.2:p.Gln256Ter, NP_001273343.1:p.Gln256Ter, XP_011519756.1:p.Gln256Ter, XP_016877567.1:p.Gln256Ter, XP_011519757.1:p.Gln120Ter, XP_047288346.1:p.Gln256Ter, XP_047288347.1:p.Gln256Ter, XP_047288348.1:p.Gln256Ter, XP_047288349.1:p.Gln256Ter

Select item 14833200645.

rs1483320064 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:43403761 (GRCh38)
15:43695959 (GRCh37)
Canonical SPDI:: NC_000015.10:43403760:G:A
Gene:: TP53BP1 (Varview), TUBGCP4 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.43403761G>A, NC_000015.9:g.43695959G>A, NG_042168.1:g.37703G>A, NM_014444.5:c.1810G>A, NM_014444.4:c.1810G>A, NM_014444.3:c.1810G>A, NM_014444.2:c.1810G>A, NM_001286414.3:c.1813G>A, NM_001286414.2:c.1813G>A, NM_001286414.1:c.1813G>A, NM_005657.4:c.*3622C>T, NM_005657.3:c.*3622C>T, NM_001141980.3:c.*3622C>T, NM_001141980.2:c.*3622C>T, NM_001141979.3:c.*3622C>T, NM_001141979.2:c.*3622C>T, XM_011521455.3:c.1405G>A, XM_011521455.2:c.1405G>A, XM_011521455.1:c.1405G>A, NM_001355001.2:c.*3622C>T, NM_001355001.1:c.*3622C>T, XM_047432995.1:c.*3622C>T, XM_047432994.1:c.*3622C>T, XM_047432996.1:c.*3622C>T, NM_001411050.1:c.*3622C>T, XM_047432390.1:c.1762G>A, XM_047432391.1:c.1759G>A, NP_055259.2:p.Asp604Asn, NP_001273343.1:p.Asp605Asn, XP_011519757.1:p.Asp469Asn, XP_047288346.1:p.Asp588Asn, XP_047288347.1:p.Asp587Asn

Select item 14827331486.

rs1482733148 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:43397273 (GRCh38)
15:43689471 (GRCh37)
Canonical SPDI:: NC_000015.10:43397272:C:T
Gene:: TUBGCP4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.43397273C>T, NC_000015.9:g.43689471C>T, NG_042168.1:g.31215C>T, NM_014444.5:c.1231C>T, NM_014444.4:c.1231C>T, NM_014444.3:c.1231C>T, NM_014444.2:c.1231C>T, NM_001286414.3:c.1231C>T, NM_001286414.2:c.1231C>T, NM_001286414.1:c.1231C>T, XM_011521454.4:c.1231C>T, XM_011521454.3:c.1231C>T, XM_011521454.2:c.1231C>T, XM_011521454.1:c.1231C>T, XM_017022078.3:c.1231C>T, XM_017022078.2:c.1231C>T, XM_017022078.1:c.1231C>T, XM_011521455.3:c.823C>T, XM_011521455.2:c.823C>T, XM_011521455.1:c.823C>T, XM_047432390.1:c.1180C>T, XM_047432391.1:c.1180C>T, XM_047432392.1:c.1231C>T, XM_047432393.1:c.1231C>T, NP_055259.2:p.Leu411Phe, NP_001273343.1:p.Leu411Phe, XP_011519756.1:p.Leu411Phe, XP_016877567.1:p.Leu411Phe, XP_011519757.1:p.Leu275Phe, XP_047288346.1:p.Leu394Phe, XP_047288347.1:p.Leu394Phe, XP_047288348.1:p.Leu411Phe, XP_047288349.1:p.Leu411Phe

Select item 14756961457.

rs1475696145 [Homo sapiens]

Variant type:: DEL
Alleles:: ACTGAGCATG>- [Show Flanks]
Chromosome:: 15:43395679 (GRCh38)
15:43687877 (GRCh37)
Canonical SPDI:: NC_000015.10:43395678:ACTGAGCATG:
Gene:: TUBGCP4 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.43395679_43395688del, NC_000015.9:g.43687877_43687886del, NG_042168.1:g.29621_29630del, NM_014444.5:c.1163_1172del, NM_014444.4:c.1163_1172del, NM_014444.3:c.1163_1172del, NM_014444.2:c.1163_1172del, NM_001286414.3:c.1163_1172del, NM_001286414.2:c.1163_1172del, NM_001286414.1:c.1163_1172del, XM_011521454.4:c.1163_1172del, XM_011521454.3:c.1163_1172del, XM_011521454.2:c.1163_1172del, XM_011521454.1:c.1163_1172del, XM_017022078.3:c.1163_1172del, XM_017022078.2:c.1163_1172del, XM_017022078.1:c.1163_1172del, XM_011521455.3:c.755_764del, XM_011521455.2:c.755_764del, XM_011521455.1:c.755_764del, XM_047432390.1:c.1112_1121del, XM_047432391.1:c.1112_1121del, XM_047432392.1:c.1163_1172del, XM_047432393.1:c.1163_1172del, NP_055259.2:p.Thr388fs, NP_001273343.1:p.Thr388fs, XP_011519756.1:p.Thr388fs, XP_016877567.1:p.Thr388fs, XP_011519757.1:p.Thr252fs, XP_047288346.1:p.Thr371fs, XP_047288347.1:p.Thr371fs, XP_047288348.1:p.Thr388fs, XP_047288349.1:p.Thr388fs

Select item 14730990708.

rs1473099070 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:43383378 (GRCh38)
15:43675576 (GRCh37)
Canonical SPDI:: NC_000015.10:43383377:G:C
Gene:: TUBGCP4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.43383378G>C, NC_000015.9:g.43675576G>C, NG_042168.1:g.17320G>C, NM_014444.5:c.597G>C, NM_014444.4:c.597G>C, NM_014444.3:c.597G>C, NM_014444.2:c.597G>C, NM_001286414.3:c.597G>C, NM_001286414.2:c.597G>C, NM_001286414.1:c.597G>C, XM_011521454.4:c.597G>C, XM_011521454.3:c.597G>C, XM_011521454.2:c.597G>C, XM_011521454.1:c.597G>C, XM_017022078.3:c.597G>C, XM_017022078.2:c.597G>C, XM_017022078.1:c.597G>C, XM_011521455.3:c.189G>C, XM_011521455.2:c.189G>C, XM_011521455.1:c.189G>C, XM_047432390.1:c.597G>C, XM_047432391.1:c.597G>C, XM_047432392.1:c.597G>C, XM_047432393.1:c.597G>C, NP_055259.2:p.Gln199His, NP_001273343.1:p.Gln199His, XP_011519756.1:p.Gln199His, XP_016877567.1:p.Gln199His, XP_011519757.1:p.Gln63His, XP_047288346.1:p.Gln199His, XP_047288347.1:p.Gln199His, XP_047288348.1:p.Gln199His, XP_047288349.1:p.Gln199His

Select item 14728120699.

rs1472812069 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:43397216 (GRCh38)
15:43689414 (GRCh37)
Canonical SPDI:: NC_000015.10:43397215:G:A
Gene:: TUBGCP4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.43397216G>A, NC_000015.9:g.43689414G>A, NG_042168.1:g.31158G>A, NM_014444.5:c.1174G>A, NM_014444.4:c.1174G>A, NM_014444.3:c.1174G>A, NM_014444.2:c.1174G>A, NM_001286414.3:c.1174G>A, NM_001286414.2:c.1174G>A, NM_001286414.1:c.1174G>A, XM_011521454.4:c.1174G>A, XM_011521454.3:c.1174G>A, XM_011521454.2:c.1174G>A, XM_011521454.1:c.1174G>A, XM_017022078.3:c.1174G>A, XM_017022078.2:c.1174G>A, XM_017022078.1:c.1174G>A, XM_011521455.3:c.766G>A, XM_011521455.2:c.766G>A, XM_011521455.1:c.766G>A, XM_047432390.1:c.1123G>A, XM_047432391.1:c.1123G>A, XM_047432392.1:c.1174G>A, XM_047432393.1:c.1174G>A, NP_055259.2:p.Val392Met, NP_001273343.1:p.Val392Met, XP_011519756.1:p.Val392Met, XP_016877567.1:p.Val392Met, XP_011519757.1:p.Val256Met, XP_047288346.1:p.Val375Met, XP_047288347.1:p.Val375Met, XP_047288348.1:p.Val392Met, XP_047288349.1:p.Val392Met

Select item 146795888110.

rs1467958881 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:43400170 (GRCh38)
15:43692368 (GRCh37)
Canonical SPDI:: NC_000015.10:43400169:C:T
Gene:: TUBGCP4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.43400170C>T, NC_000015.9:g.43692368C>T, NG_042168.1:g.34112C>T, NM_014444.5:c.1545C>T, NM_014444.4:c.1545C>T, NM_014444.3:c.1545C>T, NM_014444.2:c.1545C>T, NM_001286414.3:c.1548C>T, NM_001286414.2:c.1548C>T, NM_001286414.1:c.1548C>T, XM_011521454.4:c.1548C>T, XM_011521454.3:c.1548C>T, XM_011521454.2:c.1548C>T, XM_011521454.1:c.1548C>T, XM_017022078.3:c.1545C>T, XM_017022078.2:c.1545C>T, XM_017022078.1:c.1545C>T, XM_011521455.3:c.1140C>T, XM_011521455.2:c.1140C>T, XM_011521455.1:c.1140C>T, XM_047432390.1:c.1497C>T, XM_047432391.1:c.1494C>T

Select item 146493149911.

rs1464931499 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 15:43380131 (GRCh38)
15:43672329 (GRCh37)
Canonical SPDI:: NC_000015.10:43380130:G:A,NC_000015.10:43380130:G:T
Gene:: TUBGCP4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
HGVS:: NC_000015.10:g.43380131G>A, NC_000015.10:g.43380131G>T, NC_000015.9:g.43672329G>A, NC_000015.9:g.43672329G>T, NG_042168.1:g.14073G>A, NG_042168.1:g.14073G>T, NM_014444.5:c.489G>A, NM_014444.5:c.489G>T, NM_014444.4:c.489G>A, NM_014444.4:c.489G>T, NM_014444.3:c.489G>A, NM_014444.3:c.489G>T, NM_014444.2:c.489G>A, NM_014444.2:c.489G>T, NM_001286414.3:c.489G>A, NM_001286414.3:c.489G>T, NM_001286414.2:c.489G>A, NM_001286414.2:c.489G>T, NM_001286414.1:c.489G>A, NM_001286414.1:c.489G>T, XM_011521454.4:c.489G>A, XM_011521454.4:c.489G>T, XM_011521454.3:c.489G>A, XM_011521454.3:c.489G>T, XM_011521454.2:c.489G>A, XM_011521454.2:c.489G>T, XM_011521454.1:c.489G>A, XM_011521454.1:c.489G>T, XM_017022078.3:c.489G>A, XM_017022078.3:c.489G>T, XM_017022078.2:c.489G>A, XM_017022078.2:c.489G>T, XM_017022078.1:c.489G>A, XM_017022078.1:c.489G>T, XM_011521455.3:c.81G>A, XM_011521455.3:c.81G>T, XM_011521455.2:c.81G>A, XM_011521455.2:c.81G>T, XM_011521455.1:c.81G>A, XM_011521455.1:c.81G>T, XM_047432390.1:c.489G>A, XM_047432390.1:c.489G>T, XM_047432391.1:c.489G>A, XM_047432391.1:c.489G>T, XM_047432392.1:c.489G>A, XM_047432392.1:c.489G>T, XM_047432393.1:c.489G>A, XM_047432393.1:c.489G>T

Select item 146216429112.

rs1462164291 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:43376520 (GRCh38)
15:43668718 (GRCh37)
Canonical SPDI:: NC_000015.10:43376519:A:G
Gene:: TUBGCP4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.43376520A>G, NC_000015.9:g.43668718A>G, NG_042168.1:g.10462A>G, NM_014444.5:c.225A>G, NM_014444.4:c.225A>G, NM_014444.3:c.225A>G, NM_014444.2:c.225A>G, NM_001286414.3:c.225A>G, NM_001286414.2:c.225A>G, NM_001286414.1:c.225A>G, XM_011521454.4:c.225A>G, XM_011521454.3:c.225A>G, XM_011521454.2:c.225A>G, XM_011521454.1:c.225A>G, XM_017022078.3:c.225A>G, XM_017022078.2:c.225A>G, XM_017022078.1:c.225A>G, XM_011521455.3:c.-184A>G, XM_011521455.2:c.-184A>G, XM_011521455.1:c.-184A>G, XM_047432390.1:c.225A>G, XM_047432391.1:c.225A>G, XM_047432392.1:c.225A>G, XM_047432393.1:c.225A>G

Select item 146122914913.

rs1461229149 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 15:43383460 (GRCh38)
15:43675658 (GRCh37)
Canonical SPDI:: NC_000015.10:43383459:A:C,NC_000015.10:43383459:A:G
Gene:: TUBGCP4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
C=0.000248/4 (TOMMO)
C=0.000546/1 (Korea1K)
HGVS:: NC_000015.10:g.43383460A>C, NC_000015.10:g.43383460A>G, NC_000015.9:g.43675658A>C, NC_000015.9:g.43675658A>G, NG_042168.1:g.17402A>C, NG_042168.1:g.17402A>G, NM_014444.5:c.679A>C, NM_014444.5:c.679A>G, NM_014444.4:c.679A>C, NM_014444.4:c.679A>G, NM_014444.3:c.679A>C, NM_014444.3:c.679A>G, NM_014444.2:c.679A>C, NM_014444.2:c.679A>G, NM_001286414.3:c.679A>C, NM_001286414.3:c.679A>G, NM_001286414.2:c.679A>C, NM_001286414.2:c.679A>G, NM_001286414.1:c.679A>C, NM_001286414.1:c.679A>G, XM_011521454.4:c.679A>C, XM_011521454.4:c.679A>G, XM_011521454.3:c.679A>C, XM_011521454.3:c.679A>G, XM_011521454.2:c.679A>C, XM_011521454.2:c.679A>G, XM_011521454.1:c.679A>C, XM_011521454.1:c.679A>G, XM_017022078.3:c.679A>C, XM_017022078.3:c.679A>G, XM_017022078.2:c.679A>C, XM_017022078.2:c.679A>G, XM_017022078.1:c.679A>C, XM_017022078.1:c.679A>G, XM_011521455.3:c.271A>C, XM_011521455.3:c.271A>G, XM_011521455.2:c.271A>C, XM_011521455.2:c.271A>G, XM_011521455.1:c.271A>C, XM_011521455.1:c.271A>G, XM_047432390.1:c.679A>C, XM_047432390.1:c.679A>G, XM_047432391.1:c.679A>C, XM_047432391.1:c.679A>G, XM_047432392.1:c.679A>C, XM_047432392.1:c.679A>G, XM_047432393.1:c.679A>C, XM_047432393.1:c.679A>G, NP_055259.2:p.Ile227Leu, NP_055259.2:p.Ile227Val, NP_001273343.1:p.Ile227Leu, NP_001273343.1:p.Ile227Val, XP_011519756.1:p.Ile227Leu, XP_011519756.1:p.Ile227Val, XP_016877567.1:p.Ile227Leu, XP_016877567.1:p.Ile227Val, XP_011519757.1:p.Ile91Leu, XP_011519757.1:p.Ile91Val, XP_047288346.1:p.Ile227Leu, XP_047288346.1:p.Ile227Val, XP_047288347.1:p.Ile227Leu, XP_047288347.1:p.Ile227Val, XP_047288348.1:p.Ile227Leu, XP_047288348.1:p.Ile227Val, XP_047288349.1:p.Ile227Leu, XP_047288349.1:p.Ile227Val

Select item 146081106414.

rs1460811064 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:43398162 (GRCh38)
15:43690360 (GRCh37)
Canonical SPDI:: NC_000015.10:43398161:C:T
Gene:: TUBGCP4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.43398162C>T, NC_000015.9:g.43690360C>T, NG_042168.1:g.32104C>T, NM_014444.5:c.1401C>T, NM_014444.4:c.1401C>T, NM_014444.3:c.1401C>T, NM_014444.2:c.1401C>T, NM_001286414.3:c.1404C>T, NM_001286414.2:c.1404C>T, NM_001286414.1:c.1404C>T, XM_011521454.4:c.1404C>T, XM_011521454.3:c.1404C>T, XM_011521454.2:c.1404C>T, XM_011521454.1:c.1404C>T, XM_017022078.3:c.1401C>T, XM_017022078.2:c.1401C>T, XM_017022078.1:c.1401C>T, XM_011521455.3:c.996C>T, XM_011521455.2:c.996C>T, XM_011521455.1:c.996C>T, XM_047432390.1:c.1353C>T, XM_047432391.1:c.1350C>T, XM_047432392.1:c.1404C>T, XM_047432393.1:c.1401C>T

Select item 145907420815.

rs1459074208 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:43401730 (GRCh38)
15:43693928 (GRCh37)
Canonical SPDI:: NC_000015.10:43401729:G:C
Gene:: TUBGCP4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000015.10:g.43401730G>C, NC_000015.9:g.43693928G>C, NG_042168.1:g.35672G>C, NM_014444.5:c.1611G>C, NM_014444.4:c.1611G>C, NM_014444.3:c.1611G>C, NM_014444.2:c.1611G>C, NM_001286414.3:c.1614G>C, NM_001286414.2:c.1614G>C, NM_001286414.1:c.1614G>C, XM_011521454.4:c.1614G>C, XM_011521454.3:c.1614G>C, XM_011521454.2:c.1614G>C, XM_011521454.1:c.1614G>C, XM_017022078.3:c.1611G>C, XM_017022078.2:c.1611G>C, XM_017022078.1:c.1611G>C, XM_011521455.3:c.1206G>C, XM_011521455.2:c.1206G>C, XM_011521455.1:c.1206G>C, XM_047432390.1:c.1563G>C, XM_047432391.1:c.1560G>C, NP_055259.2:p.Glu537Asp, NP_001273343.1:p.Glu538Asp, XP_011519756.1:p.Glu538Asp, XP_016877567.1:p.Glu537Asp, XP_011519757.1:p.Glu402Asp, XP_047288346.1:p.Glu521Asp, XP_047288347.1:p.Glu520Asp

Select item 145808029916.

rs1458080299 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 15:43377886 (GRCh38)
15:43670084 (GRCh37)
Canonical SPDI:: NC_000015.10:43377885:C:A,NC_000015.10:43377885:C:T
Gene:: TUBGCP4 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.43377886C>A, NC_000015.10:g.43377886C>T, NC_000015.9:g.43670084C>A, NC_000015.9:g.43670084C>T, NG_042168.1:g.11828C>A, NG_042168.1:g.11828C>T, NM_014444.5:c.424C>A, NM_014444.5:c.424C>T, NM_014444.4:c.424C>A, NM_014444.4:c.424C>T, NM_014444.3:c.424C>A, NM_014444.3:c.424C>T, NM_014444.2:c.424C>A, NM_014444.2:c.424C>T, NM_001286414.3:c.424C>A, NM_001286414.3:c.424C>T, NM_001286414.2:c.424C>A, NM_001286414.2:c.424C>T, NM_001286414.1:c.424C>A, NM_001286414.1:c.424C>T, XM_011521454.4:c.424C>A, XM_011521454.4:c.424C>T, XM_011521454.3:c.424C>A, XM_011521454.3:c.424C>T, XM_011521454.2:c.424C>A, XM_011521454.2:c.424C>T, XM_011521454.1:c.424C>A, XM_011521454.1:c.424C>T, XM_017022078.3:c.424C>A, XM_017022078.3:c.424C>T, XM_017022078.2:c.424C>A, XM_017022078.2:c.424C>T, XM_017022078.1:c.424C>A, XM_017022078.1:c.424C>T, XM_011521455.3:c.16C>A, XM_011521455.3:c.16C>T, XM_011521455.2:c.16C>A, XM_011521455.2:c.16C>T, XM_011521455.1:c.16C>A, XM_011521455.1:c.16C>T, XM_047432390.1:c.424C>A, XM_047432390.1:c.424C>T, XM_047432391.1:c.424C>A, XM_047432391.1:c.424C>T, XM_047432392.1:c.424C>A, XM_047432392.1:c.424C>T, XM_047432393.1:c.424C>A, XM_047432393.1:c.424C>T, NP_055259.2:p.Gln142Lys, NP_055259.2:p.Gln142Ter, NP_001273343.1:p.Gln142Lys, NP_001273343.1:p.Gln142Ter, XP_011519756.1:p.Gln142Lys, XP_011519756.1:p.Gln142Ter, XP_016877567.1:p.Gln142Lys, XP_016877567.1:p.Gln142Ter, XP_011519757.1:p.Gln6Lys, XP_011519757.1:p.Gln6Ter, XP_047288346.1:p.Gln142Lys, XP_047288346.1:p.Gln142Ter, XP_047288347.1:p.Gln142Lys, XP_047288347.1:p.Gln142Ter, XP_047288348.1:p.Gln142Lys, XP_047288348.1:p.Gln142Ter, XP_047288349.1:p.Gln142Lys, XP_047288349.1:p.Gln142Ter

Select item 145785777617.

rs1457857776 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAG>- [Show Flanks]
Chromosome:: 15:43377881 (GRCh38)
15:43670079 (GRCh37)
Canonical SPDI:: NC_000015.10:43377876:GTAGTAG:GTAG
Gene:: TUBGCP4 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.43377878TAG[1], NC_000015.9:g.43670076TAG[1], NG_042168.1:g.11820TAG[1], NM_014444.5:c.416TAG[1], NM_014444.4:c.416TAG[1], NM_014444.3:c.416TAG[1], NM_014444.2:c.416TAG[1], NM_001286414.3:c.416TAG[1], NM_001286414.2:c.416TAG[1], NM_001286414.1:c.416TAG[1], XM_011521454.4:c.416TAG[1], XM_011521454.3:c.416TAG[1], XM_011521454.2:c.416TAG[1], XM_011521454.1:c.416TAG[1], XM_017022078.3:c.416TAG[1], XM_017022078.2:c.416TAG[1], XM_017022078.1:c.416TAG[1], XM_011521455.3:c.8TAG[1], XM_011521455.2:c.8TAG[1], XM_011521455.1:c.8TAG[1], XM_047432390.1:c.416TAG[1], XM_047432391.1:c.416TAG[1], XM_047432392.1:c.416TAG[1], XM_047432393.1:c.416TAG[1], NP_055259.2:p.Val140del, NP_001273343.1:p.Val140del, XP_011519756.1:p.Val140del, XP_016877567.1:p.Val140del, XP_011519757.1:p.Val4del, XP_047288346.1:p.Val140del, XP_047288347.1:p.Val140del, XP_047288348.1:p.Val140del, XP_047288349.1:p.Val140del

Select item 145639145518.

rs1456391455 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 15:43377036 (GRCh38)
15:43669234 (GRCh37)
Canonical SPDI:: NC_000015.10:43377035:CC:C
Gene:: TUBGCP4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.43377037del, NC_000015.9:g.43669235del, NG_042168.1:g.10979del, NM_014444.5:c.354del, NM_014444.4:c.354del, NM_014444.3:c.354del, NM_014444.2:c.354del, NM_001286414.3:c.354del, NM_001286414.2:c.354del, NM_001286414.1:c.354del, XM_011521454.4:c.354del, XM_011521454.3:c.354del, XM_011521454.2:c.354del, XM_011521454.1:c.354del, XM_017022078.3:c.354del, XM_017022078.2:c.354del, XM_017022078.1:c.354del, XM_011521455.3:c.-55del, XM_011521455.2:c.-55del, XM_011521455.1:c.-55del, XM_047432390.1:c.354del, XM_047432391.1:c.354del, XM_047432392.1:c.354del, XM_047432393.1:c.354del, NP_055259.2:p.Ile119fs, NP_001273343.1:p.Ile119fs, XP_011519756.1:p.Ile119fs, XP_016877567.1:p.Ile119fs, XP_047288346.1:p.Ile119fs, XP_047288347.1:p.Ile119fs, XP_047288348.1:p.Ile119fs, XP_047288349.1:p.Ile119fs

Select item 145226110719.

rs1452261107 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 15:43385848 (GRCh38)
15:43678046 (GRCh37)
Canonical SPDI:: NC_000015.10:43385847:G:A,NC_000015.10:43385847:G:C
Gene:: TUBGCP4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.43385848G>A, NC_000015.10:g.43385848G>C, NC_000015.9:g.43678046G>A, NC_000015.9:g.43678046G>C, NG_042168.1:g.19790G>A, NG_042168.1:g.19790G>C, NM_014444.5:c.781G>A, NM_014444.5:c.781G>C, NM_014444.4:c.781G>A, NM_014444.4:c.781G>C, NM_014444.3:c.781G>A, NM_014444.3:c.781G>C, NM_014444.2:c.781G>A, NM_014444.2:c.781G>C, NM_001286414.3:c.781G>A, NM_001286414.3:c.781G>C, NM_001286414.2:c.781G>A, NM_001286414.2:c.781G>C, NM_001286414.1:c.781G>A, NM_001286414.1:c.781G>C, XM_011521454.4:c.781G>A, XM_011521454.4:c.781G>C, XM_011521454.3:c.781G>A, XM_011521454.3:c.781G>C, XM_011521454.2:c.781G>A, XM_011521454.2:c.781G>C, XM_011521454.1:c.781G>A, XM_011521454.1:c.781G>C, XM_017022078.3:c.781G>A, XM_017022078.3:c.781G>C, XM_017022078.2:c.781G>A, XM_017022078.2:c.781G>C, XM_017022078.1:c.781G>A, XM_017022078.1:c.781G>C, XM_011521455.3:c.373G>A, XM_011521455.3:c.373G>C, XM_011521455.2:c.373G>A, XM_011521455.2:c.373G>C, XM_011521455.1:c.373G>A, XM_011521455.1:c.373G>C, XM_047432390.1:c.781G>A, XM_047432390.1:c.781G>C, XM_047432391.1:c.781G>A, XM_047432391.1:c.781G>C, XM_047432392.1:c.781G>A, XM_047432392.1:c.781G>C, XM_047432393.1:c.781G>A, XM_047432393.1:c.781G>C, NP_055259.2:p.Val261Met, NP_055259.2:p.Val261Leu, NP_001273343.1:p.Val261Met, NP_001273343.1:p.Val261Leu, XP_011519756.1:p.Val261Met, XP_011519756.1:p.Val261Leu, XP_016877567.1:p.Val261Met, XP_016877567.1:p.Val261Leu, XP_011519757.1:p.Val125Met, XP_011519757.1:p.Val125Leu, XP_047288346.1:p.Val261Met, XP_047288346.1:p.Val261Leu, XP_047288347.1:p.Val261Met, XP_047288347.1:p.Val261Leu, XP_047288348.1:p.Val261Met, XP_047288348.1:p.Val261Leu, XP_047288349.1:p.Val261Met, XP_047288349.1:p.Val261Leu

Select item 145048534620.

rs1450485346 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 15:43383495 (GRCh38)
15:43675693 (GRCh37)
Canonical SPDI:: NC_000015.10:43383494:G:A,NC_000015.10:43383494:G:C
Gene:: TUBGCP4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by cluster
HGVS:: NC_000015.10:g.43383495G>A, NC_000015.10:g.43383495G>C, NC_000015.9:g.43675693G>A, NC_000015.9:g.43675693G>C, NG_042168.1:g.17437G>A, NG_042168.1:g.17437G>C, NM_014444.5:c.714G>A, NM_014444.5:c.714G>C, NM_014444.4:c.714G>A, NM_014444.4:c.714G>C, NM_014444.3:c.714G>A, NM_014444.3:c.714G>C, NM_014444.2:c.714G>A, NM_014444.2:c.714G>C, NM_001286414.3:c.714G>A, NM_001286414.3:c.714G>C, NM_001286414.2:c.714G>A, NM_001286414.2:c.714G>C, NM_001286414.1:c.714G>A, NM_001286414.1:c.714G>C, XM_011521454.4:c.714G>A, XM_011521454.4:c.714G>C, XM_011521454.3:c.714G>A, XM_011521454.3:c.714G>C, XM_011521454.2:c.714G>A, XM_011521454.2:c.714G>C, XM_011521454.1:c.714G>A, XM_011521454.1:c.714G>C, XM_017022078.3:c.714G>A, XM_017022078.3:c.714G>C, XM_017022078.2:c.714G>A, XM_017022078.2:c.714G>C, XM_017022078.1:c.714G>A, XM_017022078.1:c.714G>C, XM_011521455.3:c.306G>A, XM_011521455.3:c.306G>C, XM_011521455.2:c.306G>A, XM_011521455.2:c.306G>C, XM_011521455.1:c.306G>A, XM_011521455.1:c.306G>C, XM_047432390.1:c.714G>A, XM_047432390.1:c.714G>C, XM_047432391.1:c.714G>A, XM_047432391.1:c.714G>C, XM_047432392.1:c.714G>A, XM_047432392.1:c.714G>C, XM_047432393.1:c.714G>A, XM_047432393.1:c.714G>C

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