SNP Links for Protein (Select 11056032) - SNP

Links from Protein

Items: 1 to 20 of 1066

<< First< Prev

Page of 54

Next >Last >>

Select item 14905050431.

rs1490505043 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:141332230 (GRCh38)
5:140711797 (GRCh37)
Canonical SPDI:: NC_000005.10:141332229:G:A,NC_000005.10:141332229:G:C
Gene:: PCDHGA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.141332230G>A, NC_000005.10:g.141332230G>C, NC_000005.9:g.140711797G>A, NC_000005.9:g.140711797G>C, NG_000012.2:g.42427G>A, NG_000012.2:g.42427G>C, NM_018912.3:c.1546G>A, NM_018912.3:c.1546G>C, NM_018912.2:c.1546G>A, NM_018912.2:c.1546G>C, NM_031993.2:c.1546G>A, NM_031993.2:c.1546G>C, NM_031993.1:c.1546G>A, NM_031993.1:c.1546G>C, NP_061735.1:p.Ala516Thr, NP_061735.1:p.Ala516Pro, NP_114382.1:p.Ala516Thr, NP_114382.1:p.Ala516Pro

Select item 14903174052.

rs1490317405 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:141331932 (GRCh38)
5:140711499 (GRCh37)
Canonical SPDI:: NC_000005.10:141331931:T:C
Gene:: PCDHGA1 (Varview)
Functional Consequence:: synonymous_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.141331932T>C, NC_000005.9:g.140711499T>C, NG_000012.2:g.42129T>C, NM_018912.3:c.1248T>C, NM_018912.2:c.1248T>C, NM_031993.2:c.1248T>C, NM_031993.1:c.1248T>C

Select item 14902919773.

rs1490291977 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:141332540 (GRCh38)
5:140712107 (GRCh37)
Canonical SPDI:: NC_000005.10:141332539:T:C
Gene:: PCDHGA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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.141332540T>C, NC_000005.9:g.140712107T>C, NG_000012.2:g.42737T>C, NM_018912.3:c.1856T>C, NM_018912.2:c.1856T>C, NM_031993.2:c.1856T>C, NM_031993.1:c.1856T>C, NP_061735.1:p.Val619Ala, NP_114382.1:p.Val619Ala

Select item 14892280734.

rs1489228073 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:141331113 (GRCh38)
5:140710680 (GRCh37)
Canonical SPDI:: NC_000005.10:141331112:T:A
Gene:: PCDHGA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.141331113T>A, NC_000005.9:g.140710680T>A, NG_000012.2:g.41310T>A, NM_018912.3:c.429T>A, NM_018912.2:c.429T>A, NM_031993.2:c.429T>A, NM_031993.1:c.429T>A, NP_061735.1:p.Asn143Lys, NP_114382.1:p.Asn143Lys

Select item 14855321115.

rs1485532111 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:141332682 (GRCh38)
5:140712249 (GRCh37)
Canonical SPDI:: NC_000005.10:141332681:C:A
Gene:: PCDHGA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000005.10:g.141332682C>A, NC_000005.9:g.140712249C>A, NG_000012.2:g.42879C>A, NM_018912.3:c.1998C>A, NM_018912.2:c.1998C>A, NM_031993.2:c.1998C>A, NM_031993.1:c.1998C>A, NP_061735.1:p.Asp666Glu, NP_114382.1:p.Asp666Glu

Select item 14834356826.

rs1483435682 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:141331354 (GRCh38)
5:140710921 (GRCh37)
Canonical SPDI:: NC_000005.10:141331353:G:A
Gene:: PCDHGA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.141331354G>A, NC_000005.9:g.140710921G>A, NG_000012.2:g.41551G>A, NM_018912.3:c.670G>A, NM_018912.2:c.670G>A, NM_031993.2:c.670G>A, NM_031993.1:c.670G>A, NP_061735.1:p.Gly224Arg, NP_114382.1:p.Gly224Arg

Select item 14820023027.

rs1482002302 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 5:141330889 (GRCh38)
5:140710456 (GRCh37)
Canonical SPDI:: NC_000005.10:141330888:A:C,NC_000005.10:141330888:A:T
Gene:: PCDHGA1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.141330889A>C, NC_000005.10:g.141330889A>T, NC_000005.9:g.140710456A>C, NC_000005.9:g.140710456A>T, NG_000012.2:g.41086A>C, NG_000012.2:g.41086A>T, NM_018912.3:c.205A>C, NM_018912.3:c.205A>T, NM_018912.2:c.205A>C, NM_018912.2:c.205A>T, NM_031993.2:c.205A>C, NM_031993.2:c.205A>T, NM_031993.1:c.205A>C, NM_031993.1:c.205A>T, NP_061735.1:p.Arg69Ter, NP_114382.1:p.Arg69Ter

Select item 14816417478.

rs1481641747 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:141330808 (GRCh38)
5:140710375 (GRCh37)
Canonical SPDI:: NC_000005.10:141330807:G:T
Gene:: PCDHGA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.141330808G>T, NC_000005.9:g.140710375G>T, NG_000012.2:g.41005G>T, NM_018912.3:c.124G>T, NM_018912.2:c.124G>T, NM_031993.2:c.124G>T, NM_031993.1:c.124G>T, NP_061735.1:p.Gly42Cys, NP_114382.1:p.Gly42Cys

Select item 14814295099.

rs1481429509 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 5:141331420 (GRCh38)
5:140710988 (GRCh37)
Canonical SPDI:: NC_000005.10:141331420:AA:AAA
Gene:: PCDHGA1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.141331422dup, NC_000005.9:g.140710989dup, NG_000012.2:g.41619dup, NM_018912.3:c.738dup, NM_018912.2:c.738dup, NM_031993.2:c.738dup, NM_031993.1:c.738dup, NP_061735.1:p.Tyr247fs, NP_114382.1:p.Tyr247fs

Select item 148032045910.

rs1480320459 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:141331856 (GRCh38)
5:140711423 (GRCh37)
Canonical SPDI:: NC_000005.10:141331855:C:T
Gene:: PCDHGA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000094/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.141331856C>T, NC_000005.9:g.140711423C>T, NG_000012.2:g.42053C>T, NM_018912.3:c.1172C>T, NM_018912.2:c.1172C>T, NM_031993.2:c.1172C>T, NM_031993.1:c.1172C>T, NP_061735.1:p.Pro391Leu, NP_114382.1:p.Pro391Leu

Select item 147909022111.

rs1479090221 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:141330732 (GRCh38)
5:140710299 (GRCh37)
Canonical SPDI:: NC_000005.10:141330731:G:T
Gene:: PCDHGA1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000005.10:g.141330732G>T, NC_000005.9:g.140710299G>T, NG_000012.2:g.40929G>T, NM_018912.3:c.48G>T, NM_018912.2:c.48G>T, NM_031993.2:c.48G>T, NM_031993.1:c.48G>T

Select item 147840415612.

rs1478404156 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:141330726 (GRCh38)
5:140710293 (GRCh37)
Canonical SPDI:: NC_000005.10:141330725:G:A
Gene:: PCDHGA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.141330726G>A, NC_000005.9:g.140710293G>A, NG_000012.2:g.40923G>A, NM_018912.3:c.42G>A, NM_018912.2:c.42G>A, NM_031993.2:c.42G>A, NM_031993.1:c.42G>A, NP_061735.1:p.Met14Ile, NP_114382.1:p.Met14Ile

Select item 147791787713.

rs1477917877 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:141332311 (GRCh38)
5:140711878 (GRCh37)
Canonical SPDI:: NC_000005.10:141332310:A:G
Gene:: PCDHGA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000021/3 (GnomAD)
G=0.000072/18 (GnomAD_exomes)
G=0.000091/11 (ExAC)
HGVS:: NC_000005.10:g.141332311A>G, NC_000005.9:g.140711878A>G, NG_000012.2:g.42508A>G, NM_018912.3:c.1627A>G, NM_018912.2:c.1627A>G, NM_031993.2:c.1627A>G, NM_031993.1:c.1627A>G, NP_061735.1:p.Ser543Gly, NP_114382.1:p.Ser543Gly

Select item 147717398714.

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 147589041715.

rs1475890417 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:141330824 (GRCh38)
5:140710391 (GRCh37)
Canonical SPDI:: NC_000005.10:141330823:A:G
Gene:: PCDHGA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.141330824A>G, NC_000005.9:g.140710391A>G, NG_000012.2:g.41021A>G, NM_018912.3:c.140A>G, NM_018912.2:c.140A>G, NM_031993.2:c.140A>G, NM_031993.1:c.140A>G, NP_061735.1:p.Asn47Ser, NP_114382.1:p.Asn47Ser

Select item 147373649216.

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 147344716417.

rs1473447164 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:141332235 (GRCh38)
5:140711802 (GRCh37)
Canonical SPDI:: NC_000005.10:141332234:G:C
Gene:: PCDHGA1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.141332235G>C, NC_000005.9:g.140711802G>C, NG_000012.2:g.42432G>C, NM_018912.3:c.1551G>C, NM_018912.2:c.1551G>C, NM_031993.2:c.1551G>C, NM_031993.1:c.1551G>C

Select item 147233778418.

rs1472337784 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:141330899 (GRCh38)
5:140710466 (GRCh37)
Canonical SPDI:: NC_000005.10:141330898:T:C
Gene:: PCDHGA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.141330899T>C, NC_000005.9:g.140710466T>C, NG_000012.2:g.41096T>C, NM_018912.3:c.215T>C, NM_018912.2:c.215T>C, NM_031993.2:c.215T>C, NM_031993.1:c.215T>C, NP_061735.1:p.Met72Thr, NP_114382.1:p.Met72Thr

Select item 147202176319.

rs1472021763 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:141331235 (GRCh38)
5:140710802 (GRCh37)
Canonical SPDI:: NC_000005.10:141331234:A:T
Gene:: PCDHGA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.141331235A>T, NC_000005.9:g.140710802A>T, NG_000012.2:g.41432A>T, NM_018912.3:c.551A>T, NM_018912.2:c.551A>T, NM_031993.2:c.551A>T, NM_031993.1:c.551A>T, NP_061735.1:p.Gln184Leu, NP_114382.1:p.Gln184Leu

Select item 147169602420.

rs1471696024 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:141331646 (GRCh38)
5:140711213 (GRCh37)
Canonical SPDI:: NC_000005.10:141331645:C:G
Gene:: PCDHGA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000005.10:g.141331646C>G, NC_000005.9:g.140711213C>G, NG_000012.2:g.41843C>G, NM_018912.3:c.962C>G, NM_018912.2:c.962C>G, NM_031993.2:c.962C>G, NM_031993.1:c.962C>G, NP_061735.1:p.Ala321Gly, NP_114382.1:p.Ala321Gly

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 1066

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity