SNP Links for Protein (Select 14270484) - SNP

Links from Protein

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Select item 14896925971.

rs1489692597 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 5:141393807 (GRCh38)
5:140773374 (GRCh37)
Canonical SPDI:: NC_000005.10:141393806:AAA:AA
Gene:: PCDHGB4 (Varview), PCDHGA8 (Varview), PCDHGB3 (Varview), PCDHGB2 (Varview), PCDHGB1 (Varview), PCDHGA7 (Varview), PCDHGA6 (Varview), PCDHGA5 (Varview), PCDHGA4 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.141393809del, NC_000005.9:g.140773376del, NG_000012.2:g.104006del, NM_014004.3:c.996del, NM_014004.2:c.996del, NM_032088.2:c.996del, NM_032088.1:c.996del, NP_054723.1:p.Lys332fs, NP_114477.1:p.Lys332fs

Select item 14885869752.

rs1488586975 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:141393939 (GRCh38)
5:140773506 (GRCh37)
Canonical SPDI:: NC_000005.10:141393938:T:C
Gene:: PCDHGB4 (Varview), PCDHGA8 (Varview), PCDHGB3 (Varview), PCDHGB2 (Varview), PCDHGB1 (Varview), PCDHGA7 (Varview), PCDHGA6 (Varview), PCDHGA5 (Varview), PCDHGA4 (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=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.141393939T>C, NC_000005.9:g.140773506T>C, NG_000012.2:g.104136T>C, NM_014004.3:c.1126T>C, NM_014004.2:c.1126T>C, NM_032088.2:c.1126T>C, NM_032088.1:c.1126T>C, NP_054723.1:p.Ser376Pro, NP_114477.1:p.Ser376Pro

Select item 14878683993.

rs1487868399 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:141394506 (GRCh38)
5:140774073 (GRCh37)
Canonical SPDI:: NC_000005.10:141394505:C:T
Gene:: PCDHGB4 (Varview), PCDHGA8 (Varview), PCDHGB3 (Varview), PCDHGB2 (Varview), PCDHGB1 (Varview), PCDHGA7 (Varview), PCDHGA6 (Varview), PCDHGA5 (Varview), PCDHGA4 (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:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.141394506C>T, NC_000005.9:g.140774073C>T, NG_000012.2:g.104703C>T, NM_014004.3:c.1693C>T, NM_014004.2:c.1693C>T, NM_032088.2:c.1693C>T, NM_032088.1:c.1693C>T, NP_054723.1:p.Pro565Ser, NP_114477.1:p.Pro565Ser

Select item 14869159564.

rs1486915956 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:141393168 (GRCh38)
5:140772735 (GRCh37)
Canonical SPDI:: NC_000005.10:141393167:G:T
Gene:: PCDHGB4 (Varview), PCDHGA8 (Varview), PCDHGB3 (Varview), PCDHGB2 (Varview), PCDHGB1 (Varview), PCDHGA7 (Varview), PCDHGA6 (Varview), PCDHGA5 (Varview), PCDHGA4 (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:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.141393168G>T, NC_000005.9:g.140772735G>T, NG_000012.2:g.103365G>T, NM_014004.3:c.355G>T, NM_014004.2:c.355G>T, NM_032088.2:c.355G>T, NM_032088.1:c.355G>T, NP_054723.1:p.Val119Leu, NP_114477.1:p.Val119Leu

Select item 14860613095.

rs1486061309 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:141393586 (GRCh38)
5:140773153 (GRCh37)
Canonical SPDI:: NC_000005.10:141393585:G:A,NC_000005.10:141393585:G:T
Gene:: PCDHGB4 (Varview), PCDHGA8 (Varview), PCDHGB3 (Varview), PCDHGB2 (Varview), PCDHGB1 (Varview), PCDHGA7 (Varview), PCDHGA6 (Varview), PCDHGA5 (Varview), PCDHGA4 (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:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.141393586G>A, NC_000005.10:g.141393586G>T, NC_000005.9:g.140773153G>A, NC_000005.9:g.140773153G>T, NG_000012.2:g.103783G>A, NG_000012.2:g.103783G>T, NM_014004.3:c.773G>A, NM_014004.3:c.773G>T, NM_014004.2:c.773G>A, NM_014004.2:c.773G>T, NM_032088.2:c.773G>A, NM_032088.2:c.773G>T, NM_032088.1:c.773G>A, NM_032088.1:c.773G>T, NP_054723.1:p.Gly258Asp, NP_054723.1:p.Gly258Val, NP_114477.1:p.Gly258Asp, NP_114477.1:p.Gly258Val

Select item 14860103756.

rs1486010375 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:141393007 (GRCh38)
5:140772574 (GRCh37)
Canonical SPDI:: NC_000005.10:141393006:G:A
Gene:: PCDHGB4 (Varview), PCDHGA8 (Varview), PCDHGB3 (Varview), PCDHGB2 (Varview), PCDHGB1 (Varview), PCDHGA7 (Varview), PCDHGA6 (Varview), PCDHGA5 (Varview), PCDHGA4 (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:: A=0.000004/1 (GnomAD_exomes)
A=0.000342/1 (KOREAN)
HGVS:: NC_000005.10:g.141393007G>A, NC_000005.9:g.140772574G>A, NG_000012.2:g.103204G>A, NM_014004.3:c.194G>A, NM_014004.2:c.194G>A, NM_032088.2:c.194G>A, NM_032088.1:c.194G>A, NP_054723.1:p.Arg65His, NP_114477.1:p.Arg65His

Select item 14855469227.

rs1485546922 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:141394596 (GRCh38)
5:140774163 (GRCh37)
Canonical SPDI:: NC_000005.10:141394595:G:A
Gene:: PCDHGB4 (Varview), PCDHGA8 (Varview), PCDHGB3 (Varview), PCDHGB2 (Varview), PCDHGB1 (Varview), PCDHGA7 (Varview), PCDHGA6 (Varview), PCDHGA5 (Varview), PCDHGA4 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.141394596G>A, NC_000005.9:g.140774163G>A, NG_000012.2:g.104793G>A, NM_014004.3:c.1783G>A, NM_014004.2:c.1783G>A, NM_032088.2:c.1783G>A, NM_032088.1:c.1783G>A, NP_054723.1:p.Asp595Asn, NP_114477.1:p.Asp595Asn

Select item 14837950238.

rs1483795023 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:141394722 (GRCh38)
5:140774289 (GRCh37)
Canonical SPDI:: NC_000005.10:141394721:G:A
Gene:: PCDHGB4 (Varview), PCDHGA8 (Varview), PCDHGB3 (Varview), PCDHGB2 (Varview), PCDHGB1 (Varview), PCDHGA7 (Varview), PCDHGA6 (Varview), PCDHGA5 (Varview), PCDHGA4 (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:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.141394722G>A, NC_000005.9:g.140774289G>A, NG_000012.2:g.104919G>A, NM_014004.3:c.1909G>A, NM_014004.2:c.1909G>A, NM_032088.2:c.1909G>A, NM_032088.1:c.1909G>A, NP_054723.1:p.Ala637Thr, NP_114477.1:p.Ala637Thr

Select item 14817592379.

rs1481759237 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:141393269 (GRCh38)
5:140772836 (GRCh37)
Canonical SPDI:: NC_000005.10:141393268:T:C
Gene:: PCDHGB4 (Varview), PCDHGA8 (Varview), PCDHGB3 (Varview), PCDHGB2 (Varview), PCDHGB1 (Varview), PCDHGA7 (Varview), PCDHGA6 (Varview), PCDHGA5 (Varview), PCDHGA4 (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 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.141393269T>C, NC_000005.9:g.140772836T>C, NG_000012.2:g.103466T>C, NM_014004.3:c.456T>C, NM_014004.2:c.456T>C, NM_032088.2:c.456T>C, NM_032088.1:c.456T>C

Select item 148014457910.

rs1480144579 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:141394820 (GRCh38)
5:140774387 (GRCh37)
Canonical SPDI:: NC_000005.10:141394819:C:T
Gene:: PCDHGB4 (Varview), PCDHGA8 (Varview), PCDHGB3 (Varview), PCDHGB2 (Varview), PCDHGB1 (Varview), PCDHGA7 (Varview), PCDHGA6 (Varview), PCDHGA5 (Varview), PCDHGA4 (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)
HGVS:: NC_000005.10:g.141394820C>T, NC_000005.9:g.140774387C>T, NG_000012.2:g.105017C>T, NM_014004.3:c.2007C>T, NM_014004.2:c.2007C>T, NM_032088.2:c.2007C>T, NM_032088.1:c.2007C>T

Select item 147937083311.

rs1479370833 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 5:141395068 (GRCh38)
5:140774635 (GRCh37)
Canonical SPDI:: NC_000005.10:141395067:CC:C
Gene:: PCDHGB4 (Varview), PCDHGA8 (Varview), PCDHGB3 (Varview), PCDHGB2 (Varview), PCDHGB1 (Varview), PCDHGA7 (Varview), PCDHGA6 (Varview), PCDHGA5 (Varview), PCDHGA4 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.141395069del, NC_000005.9:g.140774636del, NG_000012.2:g.105266del, NM_014004.3:c.2256del, NM_014004.2:c.2256del, NM_032088.2:c.2256del, NM_032088.1:c.2256del, NP_054723.1:p.Tyr753fs, NP_114477.1:p.Tyr753fs

Select item 147800470112.

rs1478004701 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:141393735 (GRCh38)
5:140773302 (GRCh37)
Canonical SPDI:: NC_000005.10:141393734:G:C
Gene:: PCDHGB4 (Varview), PCDHGA8 (Varview), PCDHGB3 (Varview), PCDHGB2 (Varview), PCDHGB1 (Varview), PCDHGA7 (Varview), PCDHGA6 (Varview), PCDHGA5 (Varview), PCDHGA4 (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:: C=0.000066/1 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000005.10:g.141393735G>C, NC_000005.9:g.140773302G>C, NG_000012.2:g.103932G>C, NM_014004.3:c.922G>C, NM_014004.2:c.922G>C, NM_032088.2:c.922G>C, NM_032088.1:c.922G>C, NP_054723.1:p.Asp308His, NP_114477.1:p.Asp308His

Select item 147785553413.

rs1477855534 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:141394491 (GRCh38)
5:140774058 (GRCh37)
Canonical SPDI:: NC_000005.10:141394490:C:A
Gene:: PCDHGB4 (Varview), PCDHGA8 (Varview), PCDHGB3 (Varview), PCDHGB2 (Varview), PCDHGB1 (Varview), PCDHGA7 (Varview), PCDHGA6 (Varview), PCDHGA5 (Varview), PCDHGA4 (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
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.141394491C>A, NC_000005.9:g.140774058C>A, NG_000012.2:g.104688C>A, NM_014004.3:c.1678C>A, NM_014004.2:c.1678C>A, NM_032088.2:c.1678C>A, NM_032088.1:c.1678C>A, NP_054723.1:p.Pro560Thr, NP_114477.1:p.Pro560Thr

Select item 147776411914.

rs1477764119 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 5:141394029 (GRCh38)
5:140773596 (GRCh37)
Canonical SPDI:: NC_000005.10:141394028:A:G,NC_000005.10:141394028:A:T
Gene:: PCDHGB4 (Varview), PCDHGA8 (Varview), PCDHGB3 (Varview), PCDHGB2 (Varview), PCDHGB1 (Varview), PCDHGA7 (Varview), PCDHGA6 (Varview), PCDHGA5 (Varview), PCDHGA4 (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
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.141394029A>G, NC_000005.10:g.141394029A>T, NC_000005.9:g.140773596A>G, NC_000005.9:g.140773596A>T, NG_000012.2:g.104226A>G, NG_000012.2:g.104226A>T, NM_014004.3:c.1216A>G, NM_014004.3:c.1216A>T, NM_014004.2:c.1216A>G, NM_014004.2:c.1216A>T, NM_032088.2:c.1216A>G, NM_032088.2:c.1216A>T, NM_032088.1:c.1216A>G, NM_032088.1:c.1216A>T, NP_054723.1:p.Thr406Ala, NP_054723.1:p.Thr406Ser, NP_114477.1:p.Thr406Ala, NP_114477.1:p.Thr406Ser

Select item 147746307915.

rs1477463079 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:141393632 (GRCh38)
5:140773199 (GRCh37)
Canonical SPDI:: NC_000005.10:141393631:C:T
Gene:: PCDHGB4 (Varview), PCDHGA8 (Varview), PCDHGB3 (Varview), PCDHGB2 (Varview), PCDHGB1 (Varview), PCDHGA7 (Varview), PCDHGA6 (Varview), PCDHGA5 (Varview), PCDHGA4 (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.141393632C>T, NC_000005.9:g.140773199C>T, NG_000012.2:g.103829C>T, NM_014004.3:c.819C>T, NM_014004.2:c.819C>T, NM_032088.2:c.819C>T, NM_032088.1:c.819C>T

Select item 147717398716.

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 147708827217.

rs1477088272 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 5:141394907 (GRCh38)
5:140774474 (GRCh37)
Canonical SPDI:: NC_000005.10:141394906:T:A,NC_000005.10:141394906:T:C
Gene:: PCDHGB4 (Varview), PCDHGA8 (Varview), PCDHGB3 (Varview), PCDHGB2 (Varview), PCDHGB1 (Varview), PCDHGA7 (Varview), PCDHGA6 (Varview), PCDHGA5 (Varview), PCDHGA4 (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=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.141394907T>A, NC_000005.10:g.141394907T>C, NC_000005.9:g.140774474T>A, NC_000005.9:g.140774474T>C, NG_000012.2:g.105104T>A, NG_000012.2:g.105104T>C, NM_014004.3:c.2094T>A, NM_014004.3:c.2094T>C, NM_014004.2:c.2094T>A, NM_014004.2:c.2094T>C, NM_032088.2:c.2094T>A, NM_032088.2:c.2094T>C, NM_032088.1:c.2094T>A, NM_032088.1:c.2094T>C

Select item 147564838918.

rs1475648389 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:141393533 (GRCh38)
5:140773100 (GRCh37)
Canonical SPDI:: NC_000005.10:141393532:G:T
Gene:: PCDHGB4 (Varview), PCDHGA8 (Varview), PCDHGB3 (Varview), PCDHGB2 (Varview), PCDHGB1 (Varview), PCDHGA7 (Varview), PCDHGA6 (Varview), PCDHGA5 (Varview), PCDHGA4 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.141393533G>T, NC_000005.9:g.140773100G>T, NG_000012.2:g.103730G>T, NM_014004.3:c.720G>T, NM_014004.2:c.720G>T, NM_032088.2:c.720G>T, NM_032088.1:c.720G>T

Select item 147486520219.

rs1474865202 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:141392820 (GRCh38)
5:140772387 (GRCh37)
Canonical SPDI:: NC_000005.10:141392819:G:A,NC_000005.10:141392819:G:C
Gene:: PCDHGB4 (Varview), PCDHGA8 (Varview), PCDHGB3 (Varview), PCDHGB2 (Varview), PCDHGB1 (Varview), PCDHGA7 (Varview), PCDHGA6 (Varview), PCDHGA5 (Varview), PCDHGA4 (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:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.141392820G>A, NC_000005.10:g.141392820G>C, NC_000005.9:g.140772387G>A, NC_000005.9:g.140772387G>C, NG_000012.2:g.103017G>A, NG_000012.2:g.103017G>C, NM_014004.3:c.7G>A, NM_014004.3:c.7G>C, NM_014004.2:c.7G>A, NM_014004.2:c.7G>C, NM_032088.2:c.7G>A, NM_032088.2:c.7G>C, NM_032088.1:c.7G>A, NM_032088.1:c.7G>C, NP_054723.1:p.Ala3Thr, NP_054723.1:p.Ala3Pro, NP_114477.1:p.Ala3Thr, NP_114477.1:p.Ala3Pro

Select item 147462680020.

rs1474626800 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:141392929 (GRCh38)
5:140772496 (GRCh37)
Canonical SPDI:: NC_000005.10:141392928:C:T
Gene:: PCDHGB4 (Varview), PCDHGA8 (Varview), PCDHGB3 (Varview), PCDHGB2 (Varview), PCDHGB1 (Varview), PCDHGA7 (Varview), PCDHGA6 (Varview), PCDHGA5 (Varview), PCDHGA4 (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=0.000028/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.141392929C>T, NC_000005.9:g.140772496C>T, NG_000012.2:g.103126C>T, NM_014004.3:c.116C>T, NM_014004.2:c.116C>T, NM_032088.2:c.116C>T, NM_032088.1:c.116C>T, NP_054723.1:p.Thr39Met, NP_114477.1:p.Thr39Met

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