SNP Links for Protein (Select 11128037) - SNP

Links from Protein

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Select item 14897359451.

rs1489735945 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:141351753 (GRCh38)
5:140731320 (GRCh37)
Canonical SPDI:: NC_000005.10:141351752:T:C
Gene:: PCDHGB1 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.141351753T>C, NC_000005.9:g.140731320T>C, NG_000012.2:g.61950T>C, NM_018922.3:c.1493T>C, NM_018922.2:c.1493T>C, NM_032095.1:c.1493T>C, NP_061745.1:p.Leu498Ser, NP_115266.1:p.Leu498Ser

Select item 14885353602.

rs1488535360 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:141350571 (GRCh38)
5:140730138 (GRCh37)
Canonical SPDI:: NC_000005.10:141350570:A:G
Gene:: PCDHGB1 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.141350571A>G, NC_000005.9:g.140730138A>G, NG_000012.2:g.60768A>G, NM_018922.3:c.311A>G, NM_018922.2:c.311A>G, NM_032095.1:c.311A>G, NP_061745.1:p.Glu104Gly, NP_115266.1:p.Glu104Gly

Select item 14857130283.

rs1485713028 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:141350938 (GRCh38)
5:140730505 (GRCh37)
Canonical SPDI:: NC_000005.10:141350937:G:T
Gene:: PCDHGB1 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.141350938G>T, NC_000005.9:g.140730505G>T, NG_000012.2:g.61135G>T, NM_018922.3:c.678G>T, NM_018922.2:c.678G>T, NM_032095.1:c.678G>T, NP_061745.1:p.Trp226Cys, NP_115266.1:p.Trp226Cys

Select item 14856810084.

rs1485681008 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:141351553 (GRCh38)
5:140731120 (GRCh37)
Canonical SPDI:: NC_000005.10:141351552:G:C
Gene:: PCDHGB1 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.141351553G>C, NC_000005.9:g.140731120G>C, NG_000012.2:g.61750G>C, NM_018922.3:c.1293G>C, NM_018922.2:c.1293G>C, NM_032095.1:c.1293G>C, NP_061745.1:p.Arg431Ser, NP_115266.1:p.Arg431Ser

Select item 14850297875.

rs1485029787 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:141352010 (GRCh38)
5:140731577 (GRCh37)
Canonical SPDI:: NC_000005.10:141352009:G:A,NC_000005.10:141352009:G:C
Gene:: PCDHGB1 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.141352010G>A, NC_000005.10:g.141352010G>C, NC_000005.9:g.140731577G>A, NC_000005.9:g.140731577G>C, NG_000012.2:g.62207G>A, NG_000012.2:g.62207G>C, NM_018922.3:c.1750G>A, NM_018922.3:c.1750G>C, NM_018922.2:c.1750G>A, NM_018922.2:c.1750G>C, NM_032095.1:c.1750G>A, NM_032095.1:c.1750G>C, NP_061745.1:p.Val584Met, NP_061745.1:p.Val584Leu, NP_115266.1:p.Val584Met, NP_115266.1:p.Val584Leu

Select item 14843794586.

rs1484379458 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:141351249 (GRCh38)
5:140730816 (GRCh37)
Canonical SPDI:: NC_000005.10:141351248:A:G
Gene:: PCDHGB1 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.141351249A>G, NC_000005.9:g.140730816A>G, NG_000012.2:g.61446A>G, NM_018922.3:c.989A>G, NM_018922.2:c.989A>G, NM_032095.1:c.989A>G, NP_061745.1:p.Gln330Arg, NP_115266.1:p.Gln330Arg

Select item 14843728637.

rs1484372863 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:141352551 (GRCh38)
5:140732118 (GRCh37)
Canonical SPDI:: NC_000005.10:141352550:T:C
Gene:: PCDHGB1 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.141352551T>C, NC_000005.9:g.140732118T>C, NG_000012.2:g.62748T>C, NM_018922.3:c.2291T>C, NM_018922.2:c.2291T>C, NM_032095.1:c.2291T>C, NP_061745.1:p.Leu764Pro, NP_115266.1:p.Leu764Pro

Select item 14815941208.

rs1481594120 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:141351628 (GRCh38)
5:140731195 (GRCh37)
Canonical SPDI:: NC_000005.10:141351627:C:T
Gene:: PCDHGB1 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.141351628C>T, NC_000005.9:g.140731195C>T, NG_000012.2:g.61825C>T, NM_018922.3:c.1368C>T, NM_018922.2:c.1368C>T, NM_032095.1:c.1368C>T

Select item 14771739879.

rs1477173987 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAG>- [Show Flanks]
Chromosome:: 5:141511162 (GRCh38)
5:140890729 (GRCh37)
Canonical SPDI:: NC_000005.10:141511159:AGGAG:AG
Gene:: PCDHGC3 (Varview), PCDHGB4 (Varview), PCDHGA8 (Varview), PCDHGA12 (Varview), PCDHGC5 (Varview), PCDHGC4 (Varview), PCDHGB7 (Varview), PCDHGB6 (Varview), PCDHGB5 (Varview), PCDHGB3 (Varview), PCDHGB2 (Varview), PCDHGB1 (Varview), PCDHGA11 (Varview), PCDHGA10 (Varview), PCDHGA9 (Varview), PCDHGA7 (Varview), PCDHGA6 (Varview), PCDHGA5 (Varview), PCDHGA4 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: inframe_deletion,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.141511162_141511164del, NC_000005.9:g.140890729_140890731del, NG_000012.2:g.221359_221361del, NG_050746.1:g.30989_30991del, NM_018928.3:c.2806_2808del, NM_018928.2:c.2806_2808del, NM_001386884.1:c.376_378del, NM_018924.5:c.2779_2781del, NM_018924.4:c.2779_2781del, NM_018924.3:c.2779_2781del, NM_018924.2:c.2779_2781del, NM_018915.4:c.2788_2790del, NM_018915.3:c.2788_2790del, NM_018915.2:c.2788_2790del, NM_018916.4:c.2788_2790del, NM_018916.3:c.2788_2790del, NM_018917.4:c.2878_2880del, NM_018917.3:c.2878_2880del, NM_018917.2:c.2785_2787del, NM_018927.4:c.2779_2781del, NM_018927.3:c.2779_2781del, NM_003736.4:c.2761_2763del, NM_003736.3:c.2761_2763del, NM_003736.2:c.2761_2763del, NM_018920.4:c.2788_2790del, NM_018920.3:c.2788_2790del, NM_018920.2:c.2788_2790del, NM_002588.4:c.2794_2796del, NM_002588.3:c.2794_2796del, NM_002588.2:c.2794_2796del, NM_003735.3:c.2788_2790del, NM_003735.2:c.2788_2790del, NM_018913.3:c.2800_2802del, NM_018913.2:c.2800_2802del, NM_018929.3:c.2824_2826del, NM_018929.2:c.2824_2826del, NM_018919.3:c.2788_2790del, NM_018919.2:c.2788_2790del, NM_018914.3:c.2797_2799del, NM_018914.2:c.2797_2799del, NM_018926.3:c.2782_2784del, NM_018926.2:c.2782_2784del, NM_018921.3:c.2788_2790del, NM_018921.2:c.2788_2790del, NM_018912.3:c.2785_2787del, NM_018912.2:c.2785_2787del, NM_018918.3:c.2785_2787del, NM_018918.2:c.2785_2787del, NM_018925.3:c.2761_2763del, NM_018925.2:c.2761_2763del, NM_018922.3:c.2773_2775del, NM_018922.2:c.2773_2775del, NM_018923.3:c.2785_2787del, NM_018923.2:c.2785_2787del, NM_032403.3:c.394_396del, NM_032403.2:c.394_396del, NM_032403.1:c.394_396del, NM_032088.2:c.2788_2790del, NM_032088.1:c.2788_2790del, NM_032092.2:c.2242_2244del, NM_032092.1:c.2242_2244del, NP_061751.1:p.Glu936del, NP_001373813.1:p.Glu126del, NP_061747.2:p.Glu927del, NP_061738.1:p.Glu930del, NP_061739.2:p.Glu930del, NP_061740.2:p.Glu960del, NP_061750.1:p.Glu927del, NP_003727.1:p.Glu921del, NP_061743.1:p.Glu930del, NP_002579.2:p.Glu932del, NP_003726.1:p.Glu930del, NP_061736.1:p.Glu934del, NP_061752.1:p.Glu942del, NP_061742.1:p.Glu930del, NP_061737.1:p.Glu933del, NP_061749.1:p.Glu928del, NP_061744.1:p.Glu930del, NP_061735.1:p.Glu929del, NP_061741.1:p.Glu929del, NP_061748.1:p.Glu921del, NP_061745.1:p.Glu925del, NP_061746.1:p.Glu929del, NP_115779.1:p.Glu132del, NP_114477.1:p.Glu930del, NP_114481.1:p.Glu748del

Select item 147712098010.

rs1477120980 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:141350640 (GRCh38)
5:140730207 (GRCh37)
Canonical SPDI:: NC_000005.10:141350639:C:A
Gene:: PCDHGB1 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_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_000005.10:g.141350640C>A, NC_000005.9:g.140730207C>A, NG_000012.2:g.60837C>A, NM_018922.3:c.380C>A, NM_018922.2:c.380C>A, NM_032095.1:c.380C>A, NP_061745.1:p.Ala127Glu, NP_115266.1:p.Ala127Glu

Select item 147711227711.

rs1477112277 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:141351257 (GRCh38)
5:140730824 (GRCh37)
Canonical SPDI:: NC_000005.10:141351256:A:G
Gene:: PCDHGB1 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000005.10:g.141351257A>G, NC_000005.9:g.140730824A>G, NG_000012.2:g.61454A>G, NM_018922.3:c.997A>G, NM_018922.2:c.997A>G, NM_032095.1:c.997A>G, NP_061745.1:p.Ile333Val, NP_115266.1:p.Ile333Val

Select item 147677261712.

rs1476772617 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:141350335 (GRCh38)
5:140729902 (GRCh37)
Canonical SPDI:: NC_000005.10:141350334:G:C
Gene:: PCDHGB1 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_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_000005.10:g.141350335G>C, NC_000005.9:g.140729902G>C, NG_000012.2:g.60532G>C, NM_018922.3:c.75G>C, NM_018922.2:c.75G>C, NM_032095.1:c.75G>C

Select item 147635153713.

rs1476351537 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:141351378 (GRCh38)
5:140730945 (GRCh37)
Canonical SPDI:: NC_000005.10:141351377:G:C
Gene:: PCDHGB1 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.141351378G>C, NC_000005.9:g.140730945G>C, NG_000012.2:g.61575G>C, NM_018922.3:c.1118G>C, NM_018922.2:c.1118G>C, NM_032095.1:c.1118G>C, NP_061745.1:p.Gly373Ala, NP_115266.1:p.Gly373Ala

Select item 147555371214.

rs1475553712 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:141351119 (GRCh38)
5:140730686 (GRCh37)
Canonical SPDI:: NC_000005.10:141351118:C:A
Gene:: PCDHGB1 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.141351119C>A, NC_000005.9:g.140730686C>A, NG_000012.2:g.61316C>A, NM_018922.3:c.859C>A, NM_018922.2:c.859C>A, NM_032095.1:c.859C>A, NP_061745.1:p.Leu287Ile, NP_115266.1:p.Leu287Ile

Select item 147471929915.

rs1474719299 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:141351061 (GRCh38)
5:140730628 (GRCh37)
Canonical SPDI:: NC_000005.10:141351060:T:C
Gene:: PCDHGB1 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.141351061T>C, NC_000005.9:g.140730628T>C, NG_000012.2:g.61258T>C, NM_018922.3:c.801T>C, NM_018922.2:c.801T>C, NM_032095.1:c.801T>C

Select item 147439847916.

rs1474398479 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:141350802 (GRCh38)
5:140730369 (GRCh37)
Canonical SPDI:: NC_000005.10:141350801:A:C
Gene:: PCDHGB1 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.141350802A>C, NC_000005.9:g.140730369A>C, NG_000012.2:g.60999A>C, NM_018922.3:c.542A>C, NM_018922.2:c.542A>C, NM_032095.1:c.542A>C, NP_061745.1:p.Glu181Ala, NP_115266.1:p.Glu181Ala

Select item 147428837217.

rs1474288372 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:141351324 (GRCh38)
5:140730891 (GRCh37)
Canonical SPDI:: NC_000005.10:141351323:A:T
Gene:: PCDHGB1 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_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_000005.10:g.141351324A>T, NC_000005.9:g.140730891A>T, NG_000012.2:g.61521A>T, NM_018922.3:c.1064A>T, NM_018922.2:c.1064A>T, NM_032095.1:c.1064A>T, NP_061745.1:p.Asp355Val, NP_115266.1:p.Asp355Val

Select item 147373649218.

rs1473736492 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:141510965 (GRCh38)
5:140890532 (GRCh37)
Canonical SPDI:: NC_000005.10:141510964:C:T
Gene:: PCDHGC3 (Varview), PCDHGB4 (Varview), PCDHGA8 (Varview), PCDHGA12 (Varview), PCDHGC5 (Varview), PCDHGC4 (Varview), PCDHGB7 (Varview), PCDHGB6 (Varview), PCDHGB5 (Varview), PCDHGB3 (Varview), PCDHGB2 (Varview), PCDHGB1 (Varview), PCDHGA11 (Varview), PCDHGA10 (Varview), PCDHGA9 (Varview), PCDHGA7 (Varview), PCDHGA6 (Varview), PCDHGA5 (Varview), PCDHGA4 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_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)
HGVS:: NC_000005.10:g.141510965C>T, NC_000005.9:g.140890532C>T, NG_000012.2:g.221162C>T, NG_050746.1:g.30792C>T, NM_018928.3:c.2609C>T, NM_018928.2:c.2609C>T, NM_001386884.1:c.179C>T, NM_018924.5:c.2582C>T, NM_018924.4:c.2582C>T, NM_018924.3:c.2582C>T, NM_018924.2:c.2582C>T, NM_018915.4:c.2591C>T, NM_018915.3:c.2591C>T, NM_018915.2:c.2591C>T, NM_018916.4:c.2591C>T, NM_018916.3:c.2591C>T, NM_018917.4:c.2681C>T, NM_018917.3:c.2681C>T, NM_018917.2:c.2588C>T, NM_018927.4:c.2582C>T, NM_018927.3:c.2582C>T, NM_003736.4:c.2564C>T, NM_003736.3:c.2564C>T, NM_003736.2:c.2564C>T, NM_018920.4:c.2591C>T, NM_018920.3:c.2591C>T, NM_018920.2:c.2591C>T, NM_002588.4:c.2597C>T, NM_002588.3:c.2597C>T, NM_002588.2:c.2597C>T, NM_003735.3:c.2591C>T, NM_003735.2:c.2591C>T, NM_018913.3:c.2603C>T, NM_018913.2:c.2603C>T, NM_018929.3:c.2627C>T, NM_018929.2:c.2627C>T, NM_018919.3:c.2591C>T, NM_018919.2:c.2591C>T, NM_018914.3:c.2600C>T, NM_018914.2:c.2600C>T, NM_018926.3:c.2585C>T, NM_018926.2:c.2585C>T, NM_018921.3:c.2591C>T, NM_018921.2:c.2591C>T, NM_018912.3:c.2588C>T, NM_018912.2:c.2588C>T, NM_018918.3:c.2588C>T, NM_018918.2:c.2588C>T, NM_018925.3:c.2564C>T, NM_018925.2:c.2564C>T, NM_018922.3:c.2576C>T, NM_018922.2:c.2576C>T, NM_018923.3:c.2588C>T, NM_018923.2:c.2588C>T, NM_032403.3:c.197C>T, NM_032403.2:c.197C>T, NM_032403.1:c.197C>T, NM_032088.2:c.2591C>T, NM_032088.1:c.2591C>T, NM_032092.2:c.2045C>T, NM_032092.1:c.2045C>T, NP_061751.1:p.Ser870Phe, NP_001373813.1:p.Ser60Phe, NP_061747.2:p.Ser861Phe, NP_061738.1:p.Ser864Phe, NP_061739.2:p.Ser864Phe, NP_061740.2:p.Ser894Phe, NP_061750.1:p.Ser861Phe, NP_003727.1:p.Ser855Phe, NP_061743.1:p.Ser864Phe, NP_002579.2:p.Ser866Phe, NP_003726.1:p.Ser864Phe, NP_061736.1:p.Ser868Phe, NP_061752.1:p.Ser876Phe, NP_061742.1:p.Ser864Phe, NP_061737.1:p.Ser867Phe, NP_061749.1:p.Ser862Phe, NP_061744.1:p.Ser864Phe, NP_061735.1:p.Ser863Phe, NP_061741.1:p.Ser863Phe, NP_061748.1:p.Ser855Phe, NP_061745.1:p.Ser859Phe, NP_061746.1:p.Ser863Phe, NP_115779.1:p.Ser66Phe, NP_114477.1:p.Ser864Phe, NP_114481.1:p.Ser682Phe

Select item 147054545119.

rs1470545451 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:141494848 (GRCh38)
5:140874415 (GRCh37)
Canonical SPDI:: NC_000005.10:141494847:G:A,NC_000005.10:141494847:G:C
Gene:: PCDHGC3 (Varview), PCDHGB4 (Varview), PCDHGA8 (Varview), PCDHGA12 (Varview), PCDHGC5 (Varview), PCDHGC4 (Varview), PCDHGB7 (Varview), PCDHGB6 (Varview), PCDHGB5 (Varview), PCDHGB3 (Varview), PCDHGB2 (Varview), PCDHGB1 (Varview), PCDHGA11 (Varview), PCDHGA10 (Varview), PCDHGA9 (Varview), PCDHGA7 (Varview), PCDHGA6 (Varview), PCDHGA5 (Varview), PCDHGA4 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.141494848G>A, NC_000005.10:g.141494848G>C, NC_000005.9:g.140874415G>A, NC_000005.9:g.140874415G>C, NG_000012.2:g.205045G>A, NG_000012.2:g.205045G>C, NG_050746.1:g.14675G>A, NG_050746.1:g.14675G>C, NM_018928.3:c.2484G>A, NM_018928.3:c.2484G>C, NM_018928.2:c.2484G>A, NM_018928.2:c.2484G>C, NM_001386884.1:c.54G>A, NM_001386884.1:c.54G>C, NM_018924.5:c.2457G>A, NM_018924.5:c.2457G>C, NM_018924.4:c.2457G>A, NM_018924.4:c.2457G>C, NM_018924.3:c.2457G>A, NM_018924.3:c.2457G>C, NM_018924.2:c.2457G>A, NM_018924.2:c.2457G>C, NM_018915.4:c.2466G>A, NM_018915.4:c.2466G>C, NM_018915.3:c.2466G>A, NM_018915.3:c.2466G>C, NM_018915.2:c.2466G>A, NM_018915.2:c.2466G>C, NM_018916.4:c.2466G>A, NM_018916.4:c.2466G>C, NM_018916.3:c.2466G>A, NM_018916.3:c.2466G>C, NM_018917.4:c.2556G>A, NM_018917.4:c.2556G>C, NM_018917.3:c.2556G>A, NM_018917.3:c.2556G>C, NM_018917.2:c.2463G>A, NM_018917.2:c.2463G>C, NM_018927.4:c.2457G>A, NM_018927.4:c.2457G>C, NM_018927.3:c.2457G>A, NM_018927.3:c.2457G>C, NM_003736.4:c.2439G>A, NM_003736.4:c.2439G>C, NM_003736.3:c.2439G>A, NM_003736.3:c.2439G>C, NM_003736.2:c.2439G>A, NM_003736.2:c.2439G>C, NM_018920.4:c.2466G>A, NM_018920.4:c.2466G>C, NM_018920.3:c.2466G>A, NM_018920.3:c.2466G>C, NM_018920.2:c.2466G>A, NM_018920.2:c.2466G>C, NM_002588.4:c.2472G>A, NM_002588.4:c.2472G>C, NM_002588.3:c.2472G>A, NM_002588.3:c.2472G>C, NM_002588.2:c.2472G>A, NM_002588.2:c.2472G>C, NM_003735.3:c.2466G>A, NM_003735.3:c.2466G>C, NM_003735.2:c.2466G>A, NM_003735.2:c.2466G>C, NM_018913.3:c.2478G>A, NM_018913.3:c.2478G>C, NM_018913.2:c.2478G>A, NM_018913.2:c.2478G>C, NM_018929.3:c.2502G>A, NM_018929.3:c.2502G>C, NM_018929.2:c.2502G>A, NM_018929.2:c.2502G>C, NM_018919.3:c.2466G>A, NM_018919.3:c.2466G>C, NM_018919.2:c.2466G>A, NM_018919.2:c.2466G>C, NM_018914.3:c.2475G>A, NM_018914.3:c.2475G>C, NM_018914.2:c.2475G>A, NM_018914.2:c.2475G>C, NM_018926.3:c.2460G>A, NM_018926.3:c.2460G>C, NM_018926.2:c.2460G>A, NM_018926.2:c.2460G>C, NM_018921.3:c.2466G>A, NM_018921.3:c.2466G>C, NM_018921.2:c.2466G>A, NM_018921.2:c.2466G>C, NM_018912.3:c.2463G>A, NM_018912.3:c.2463G>C, NM_018912.2:c.2463G>A, NM_018912.2:c.2463G>C, NM_018918.3:c.2463G>A, NM_018918.3:c.2463G>C, NM_018918.2:c.2463G>A, NM_018918.2:c.2463G>C, NM_018925.3:c.2439G>A, NM_018925.3:c.2439G>C, NM_018925.2:c.2439G>A, NM_018925.2:c.2439G>C, NM_018922.3:c.2451G>A, NM_018922.3:c.2451G>C, NM_018922.2:c.2451G>A, NM_018922.2:c.2451G>C, NM_018923.3:c.2463G>A, NM_018923.3:c.2463G>C, NM_018923.2:c.2463G>A, NM_018923.2:c.2463G>C, NM_032403.3:c.72G>A, NM_032403.3:c.72G>C, NM_032403.2:c.72G>A, NM_032403.2:c.72G>C, NM_032403.1:c.72G>A, NM_032403.1:c.72G>C, NM_032088.2:c.2466G>A, NM_032088.2:c.2466G>C, NM_032088.1:c.2466G>A, NM_032088.1:c.2466G>C, NM_032092.2:c.1920G>A, NM_032092.2:c.1920G>C, NM_032092.1:c.1920G>A, NM_032092.1:c.1920G>C, NP_061751.1:p.Gln828His, NP_001373813.1:p.Gln18His, NP_061747.2:p.Gln819His, NP_061738.1:p.Gln822His, NP_061739.2:p.Gln822His, NP_061740.2:p.Gln852His, NP_061750.1:p.Gln819His, NP_003727.1:p.Gln813His, NP_061743.1:p.Gln822His, NP_002579.2:p.Gln824His, NP_003726.1:p.Gln822His, NP_061736.1:p.Gln826His, NP_061752.1:p.Gln834His, NP_061742.1:p.Gln822His, NP_061737.1:p.Gln825His, NP_061749.1:p.Gln820His, NP_061744.1:p.Gln822His, NP_061735.1:p.Gln821His, NP_061741.1:p.Gln821His, NP_061748.1:p.Gln813His, NP_061745.1:p.Gln817His, NP_061746.1:p.Gln821His, NP_115779.1:p.Gln24His, NP_114477.1:p.Gln822His, NP_114481.1:p.Gln640His

Select item 146992714320.

rs1469927143 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:141352069 (GRCh38)
5:140731636 (GRCh37)
Canonical SPDI:: NC_000005.10:141352068:C:T
Gene:: PCDHGB1 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.141352069C>T, NC_000005.9:g.140731636C>T, NG_000012.2:g.62266C>T, NM_018922.3:c.1809C>T, NM_018922.2:c.1809C>T, NM_032095.1:c.1809C>T

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