SNP Links for Protein (Select 565324185) - SNP

Links from Protein

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Select item 14742875611.

rs1474287561 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 9:136850101 (GRCh38)
9:139744553 (GRCh37)
Canonical SPDI:: NC_000009.12:136850100:T:C,NC_000009.12:136850100:T:G
Gene:: PHPT1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.136850101T>C, NC_000009.12:g.136850101T>G, NC_000009.11:g.139744553T>C, NC_000009.11:g.139744553T>G, NM_014172.6:c.249T>C, NM_014172.6:c.249T>G, NM_014172.5:c.249T>C, NM_014172.5:c.249T>G, NM_014172.4:c.249T>C, NM_014172.4:c.249T>G, NM_001135861.3:c.249T>C, NM_001135861.3:c.249T>G, NM_001135861.2:c.249T>C, NM_001135861.2:c.249T>G, NM_001135861.1:c.249T>C, NM_001135861.1:c.249T>G, NR_109807.2:n.271T>C, NR_109807.2:n.271T>G, NR_109807.1:n.864T>C, NR_109807.1:n.864T>G, NM_001287343.2:c.249T>C, NM_001287343.2:c.249T>G, NM_001287343.1:c.249T>C, NM_001287343.1:c.249T>G, NM_001287342.2:c.255T>C, NM_001287342.2:c.255T>G, NM_001287342.1:c.255T>C, NM_001287342.1:c.255T>G, NR_109808.2:n.254T>C, NR_109808.2:n.254T>G, NR_109808.1:n.847T>C, NR_109808.1:n.847T>G, NM_001135860.1:c.249T>C, NM_001135860.1:c.249T>G, NP_054891.2:p.Ser83Arg, NP_001129333.1:p.Ser83Arg, NP_001274272.1:p.Ser83Arg, NP_001274271.1:p.Ser85Arg

Select item 14688616552.

rs1468861655 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:136849582 (GRCh38)
9:139744034 (GRCh37)
Canonical SPDI:: NC_000009.12:136849581:A:C
Gene:: PHPT1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.136849582A>C, NC_000009.11:g.139744034A>C, NM_014172.6:c.152A>C, NM_014172.5:c.152A>C, NM_014172.4:c.152A>C, NM_001135861.3:c.152A>C, NM_001135861.2:c.152A>C, NM_001135861.1:c.152A>C, NR_109807.2:n.174A>C, NR_109807.1:n.767A>C, NM_001287343.2:c.152A>C, NM_001287343.1:c.152A>C, NM_001287342.2:c.152A>C, NM_001287342.1:c.152A>C, NM_001135860.1:c.152A>C, NP_054891.2:p.Glu51Ala, NP_001129333.1:p.Glu51Ala, NP_001274272.1:p.Glu51Ala, NP_001274271.1:p.Glu51Ala

Select item 14528644263.

rs1452864426 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:136849550 (GRCh38)
9:139744002 (GRCh37)
Canonical SPDI:: NC_000009.12:136849549:C:T
Gene:: PHPT1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.136849550C>T, NC_000009.11:g.139744002C>T, NM_014172.6:c.120C>T, NM_014172.5:c.120C>T, NM_014172.4:c.120C>T, NM_001135861.3:c.120C>T, NM_001135861.2:c.120C>T, NM_001135861.1:c.120C>T, NR_109807.2:n.142C>T, NR_109807.1:n.735C>T, NM_001287343.2:c.120C>T, NM_001287343.1:c.120C>T, NM_001287342.2:c.120C>T, NM_001287342.1:c.120C>T, NR_109808.2:n.142C>T, NR_109808.1:n.735C>T, NM_001135860.1:c.120C>T

Select item 14526303864.

rs1452630386 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:136850023 (GRCh38)
9:139744475 (GRCh37)
Canonical SPDI:: NC_000009.12:136850022:C:T
Gene:: PHPT1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.136850023C>T, NC_000009.11:g.139744475C>T, NM_014172.6:c.171C>T, NM_014172.5:c.171C>T, NM_014172.4:c.171C>T, NM_001135861.3:c.171C>T, NM_001135861.2:c.171C>T, NM_001135861.1:c.171C>T, NR_109807.2:n.193C>T, NR_109807.1:n.786C>T, NM_001287343.2:c.171C>T, NM_001287343.1:c.171C>T, NM_001287342.2:c.177C>T, NM_001287342.1:c.177C>T, NR_109808.2:n.176C>T, NR_109808.1:n.769C>T, NM_001135860.1:c.171C>T

Select item 14504946275.

rs1450494627 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:136849586 (GRCh38)
9:139744038 (GRCh37)
Canonical SPDI:: NC_000009.12:136849585:C:G
Gene:: PHPT1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,non_coding_transcript_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.136849586C>G, NC_000009.11:g.139744038C>G, NM_014172.6:c.156C>G, NM_014172.5:c.156C>G, NM_014172.4:c.156C>G, NM_001135861.3:c.156C>G, NM_001135861.2:c.156C>G, NM_001135861.1:c.156C>G, NR_109807.2:n.178C>G, NR_109807.1:n.771C>G, NM_001287343.2:c.156C>G, NM_001287343.1:c.156C>G, NM_001287342.2:c.156C>G, NM_001287342.1:c.156C>G, NM_001135860.1:c.156C>G, NP_054891.2:p.Tyr52Ter, NP_001129333.1:p.Tyr52Ter, NP_001274272.1:p.Tyr52Ter, NP_001274271.1:p.Tyr52Ter

Select item 14438400896.

rs1443840089 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:136850044 (GRCh38)
9:139744496 (GRCh37)
Canonical SPDI:: NC_000009.12:136850043:G:A
Gene:: PHPT1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.136850044G>A, NC_000009.11:g.139744496G>A, NM_014172.6:c.192G>A, NM_014172.5:c.192G>A, NM_014172.4:c.192G>A, NM_001135861.3:c.192G>A, NM_001135861.2:c.192G>A, NM_001135861.1:c.192G>A, NR_109807.2:n.214G>A, NR_109807.1:n.807G>A, NM_001287343.2:c.192G>A, NM_001287343.1:c.192G>A, NM_001287342.2:c.198G>A, NM_001287342.1:c.198G>A, NR_109808.2:n.197G>A, NR_109808.1:n.790G>A, NM_001135860.1:c.192G>A, NP_054891.2:p.Met64Ile, NP_001129333.1:p.Met64Ile, NP_001274272.1:p.Met64Ile, NP_001274271.1:p.Met66Ile

Select item 14423277967.

rs1442327796 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:136850094 (GRCh38)
9:139744546 (GRCh37)
Canonical SPDI:: NC_000009.12:136850093:A:C
Gene:: PHPT1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000009.12:g.136850094A>C, NC_000009.11:g.139744546A>C, NM_014172.6:c.242A>C, NM_014172.5:c.242A>C, NM_014172.4:c.242A>C, NM_001135861.3:c.242A>C, NM_001135861.2:c.242A>C, NM_001135861.1:c.242A>C, NR_109807.2:n.264A>C, NR_109807.1:n.857A>C, NM_001287343.2:c.242A>C, NM_001287343.1:c.242A>C, NM_001287342.2:c.248A>C, NM_001287342.1:c.248A>C, NR_109808.2:n.247A>C, NR_109808.1:n.840A>C, NM_001135860.1:c.242A>C, NP_054891.2:p.His81Pro, NP_001129333.1:p.His81Pro, NP_001274272.1:p.His81Pro, NP_001274271.1:p.His83Pro

Select item 14224301888.

rs1422430188 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:136850039 (GRCh38)
9:139744491 (GRCh37)
Canonical SPDI:: NC_000009.12:136850038:G:A
Gene:: PHPT1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.136850039G>A, NC_000009.11:g.139744491G>A, NM_014172.6:c.187G>A, NM_014172.5:c.187G>A, NM_014172.4:c.187G>A, NM_001135861.3:c.187G>A, NM_001135861.2:c.187G>A, NM_001135861.1:c.187G>A, NR_109807.2:n.209G>A, NR_109807.1:n.802G>A, NM_001287343.2:c.187G>A, NM_001287343.1:c.187G>A, NM_001287342.2:c.193G>A, NM_001287342.1:c.193G>A, NR_109808.2:n.192G>A, NR_109808.1:n.785G>A, NM_001135860.1:c.187G>A, NP_054891.2:p.Asp63Asn, NP_001129333.1:p.Asp63Asn, NP_001274272.1:p.Asp63Asn, NP_001274271.1:p.Asp65Asn

Select item 14199821859.

rs1419982185 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:136850108 (GRCh38)
9:139744560 (GRCh37)
Canonical SPDI:: NC_000009.12:136850107:A:G
Gene:: PHPT1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000009.12:g.136850108A>G, NC_000009.11:g.139744560A>G, NM_014172.6:c.256A>G, NM_014172.5:c.256A>G, NM_014172.4:c.256A>G, NM_001135861.3:c.256A>G, NM_001135861.2:c.256A>G, NM_001135861.1:c.256A>G, NR_109807.2:n.278A>G, NR_109807.1:n.871A>G, NM_001287343.2:c.256A>G, NM_001287343.1:c.256A>G, NM_001287342.2:c.262A>G, NM_001287342.1:c.262A>G, NR_109808.2:n.261A>G, NR_109808.1:n.854A>G, NM_001135860.1:c.256A>G, NP_054891.2:p.Lys86Glu, NP_001129333.1:p.Lys86Glu, NP_001274272.1:p.Lys86Glu, NP_001274271.1:p.Lys88Glu

Select item 141317729110.

rs1413177291 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:136849589 (GRCh38)
9:139744041 (GRCh37)
Canonical SPDI:: NC_000009.12:136849588:T:C
Gene:: PHPT1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.136849589T>C, NC_000009.11:g.139744041T>C, NM_014172.6:c.159T>C, NM_014172.5:c.159T>C, NM_014172.4:c.159T>C, NM_001135861.3:c.159T>C, NM_001135861.2:c.159T>C, NM_001135861.1:c.159T>C, NR_109807.2:n.181T>C, NR_109807.1:n.774T>C, NM_001287343.2:c.159T>C, NM_001287343.1:c.159T>C, NM_001287342.2:c.159T>C, NM_001287342.1:c.159T>C, NM_001135860.1:c.159T>C

Select item 139162937511.

rs1391629375 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:136850038 (GRCh38)
9:139744490 (GRCh37)
Canonical SPDI:: NC_000009.12:136850037:C:G,NC_000009.12:136850037:C:T
Gene:: PHPT1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
G=0.000042/11 (TOPMED)
T=0.000071/2 (TOMMO)
HGVS:: NC_000009.12:g.136850038C>G, NC_000009.12:g.136850038C>T, NC_000009.11:g.139744490C>G, NC_000009.11:g.139744490C>T, NM_014172.6:c.186C>G, NM_014172.6:c.186C>T, NM_014172.5:c.186C>G, NM_014172.5:c.186C>T, NM_014172.4:c.186C>G, NM_014172.4:c.186C>T, NM_001135861.3:c.186C>G, NM_001135861.3:c.186C>T, NM_001135861.2:c.186C>G, NM_001135861.2:c.186C>T, NM_001135861.1:c.186C>G, NM_001135861.1:c.186C>T, NR_109807.2:n.208C>G, NR_109807.2:n.208C>T, NR_109807.1:n.801C>G, NR_109807.1:n.801C>T, NM_001287343.2:c.186C>G, NM_001287343.2:c.186C>T, NM_001287343.1:c.186C>G, NM_001287343.1:c.186C>T, NM_001287342.2:c.192C>G, NM_001287342.2:c.192C>T, NM_001287342.1:c.192C>G, NM_001287342.1:c.192C>T, NR_109808.2:n.191C>G, NR_109808.2:n.191C>T, NR_109808.1:n.784C>G, NR_109808.1:n.784C>T, NM_001135860.1:c.186C>G, NM_001135860.1:c.186C>T

Select item 139001727912.

rs1390017279 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:136849526 (GRCh38)
9:139743978 (GRCh37)
Canonical SPDI:: NC_000009.12:136849525:C:T
Gene:: PHPT1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.136849526C>T, NC_000009.11:g.139743978C>T, NM_014172.6:c.96C>T, NM_014172.5:c.96C>T, NM_014172.4:c.96C>T, NM_001135861.3:c.96C>T, NM_001135861.2:c.96C>T, NM_001135861.1:c.96C>T, NR_109807.2:n.118C>T, NR_109807.1:n.711C>T, NM_001287343.2:c.96C>T, NM_001287343.1:c.96C>T, NM_001287342.2:c.96C>T, NM_001287342.1:c.96C>T, NR_109808.2:n.118C>T, NR_109808.1:n.711C>T, NM_001135860.1:c.96C>T

Select item 136856553113.

rs1368565531 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:136849440 (GRCh38)
9:139743892 (GRCh37)
Canonical SPDI:: NC_000009.12:136849439:G:C
Gene:: PHPT1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.136849440G>C, NC_000009.11:g.139743892G>C, NM_014172.6:c.10G>C, NM_014172.5:c.10G>C, NM_014172.4:c.10G>C, NM_001135861.3:c.10G>C, NM_001135861.2:c.10G>C, NM_001135861.1:c.10G>C, NR_109807.2:n.32G>C, NR_109807.1:n.625G>C, NM_001287343.2:c.10G>C, NM_001287343.1:c.10G>C, NM_001287342.2:c.10G>C, NM_001287342.1:c.10G>C, NR_109808.2:n.32G>C, NR_109808.1:n.625G>C, NM_001135860.1:c.10G>C, NP_054891.2:p.Ala4Pro, NP_001129333.1:p.Ala4Pro, NP_001274272.1:p.Ala4Pro, NP_001274271.1:p.Ala4Pro

Select item 136404887714.

rs1364048877 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 9:136849437 (GRCh38)
9:139743889 (GRCh37)
Canonical SPDI:: NC_000009.12:136849436:G:A,NC_000009.12:136849436:G:C
Gene:: PHPT1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_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_000009.12:g.136849437G>A, NC_000009.12:g.136849437G>C, NC_000009.11:g.139743889G>A, NC_000009.11:g.139743889G>C, NM_014172.6:c.7G>A, NM_014172.6:c.7G>C, NM_014172.5:c.7G>A, NM_014172.5:c.7G>C, NM_014172.4:c.7G>A, NM_014172.4:c.7G>C, NM_001135861.3:c.7G>A, NM_001135861.3:c.7G>C, NM_001135861.2:c.7G>A, NM_001135861.2:c.7G>C, NM_001135861.1:c.7G>A, NM_001135861.1:c.7G>C, NR_109807.2:n.29G>A, NR_109807.2:n.29G>C, NR_109807.1:n.622G>A, NR_109807.1:n.622G>C, NM_001287343.2:c.7G>A, NM_001287343.2:c.7G>C, NM_001287343.1:c.7G>A, NM_001287343.1:c.7G>C, NM_001287342.2:c.7G>A, NM_001287342.2:c.7G>C, NM_001287342.1:c.7G>A, NM_001287342.1:c.7G>C, NR_109808.2:n.29G>A, NR_109808.2:n.29G>C, NR_109808.1:n.622G>A, NR_109808.1:n.622G>C, NM_001135860.1:c.7G>A, NM_001135860.1:c.7G>C, NP_054891.2:p.Val3Met, NP_054891.2:p.Val3Leu, NP_001129333.1:p.Val3Met, NP_001129333.1:p.Val3Leu, NP_001274272.1:p.Val3Met, NP_001274272.1:p.Val3Leu, NP_001274271.1:p.Val3Met, NP_001274271.1:p.Val3Leu

Select item 136302386015.

rs1363023860 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:136850134 (GRCh38)
9:139744586 (GRCh37)
Canonical SPDI:: NC_000009.12:136850133:C:G,NC_000009.12:136850133:C:T
Gene:: PHPT1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.136850134C>G, NC_000009.12:g.136850134C>T, NC_000009.11:g.139744586C>G, NC_000009.11:g.139744586C>T, NM_014172.6:c.282C>G, NM_014172.6:c.282C>T, NM_014172.5:c.282C>G, NM_014172.5:c.282C>T, NM_014172.4:c.282C>G, NM_014172.4:c.282C>T, NM_001135861.3:c.282C>G, NM_001135861.3:c.282C>T, NM_001135861.2:c.282C>G, NM_001135861.2:c.282C>T, NM_001135861.1:c.282C>G, NM_001135861.1:c.282C>T, NR_109807.2:n.304C>G, NR_109807.2:n.304C>T, NR_109807.1:n.897C>G, NR_109807.1:n.897C>T, NM_001287343.2:c.282C>G, NM_001287343.2:c.282C>T, NM_001287343.1:c.282C>G, NM_001287343.1:c.282C>T, NM_001287342.2:c.288C>G, NM_001287342.2:c.288C>T, NM_001287342.1:c.288C>G, NM_001287342.1:c.288C>T, NR_109808.2:n.287C>G, NR_109808.2:n.287C>T, NR_109808.1:n.880C>G, NR_109808.1:n.880C>T, NM_001135860.1:c.282C>G, NM_001135860.1:c.282C>T

Select item 135820786716.

rs1358207867 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:136850512 (GRCh38)
9:139744964 (GRCh37)
Canonical SPDI:: NC_000009.12:136850511:C:G
Gene:: PHPT1 (Varview), MAMDC4 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.136850512C>G, NC_000009.11:g.139744964C>G, NM_001135861.3:c.292C>G, NM_001135861.2:c.292C>G, NM_001135861.1:c.292C>G, NR_109807.2:n.682C>G, NR_109807.1:n.1275C>G, NM_001287343.2:c.295C>G, NM_001287343.1:c.295C>G, NM_001135860.1:c.*282C>G, NP_001129333.1:p.Pro98Ala, NP_001274272.1:p.Pro99Ala

Select item 135752979317.

rs1357529793 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCTG>- [Show Flanks]
Chromosome:: 9:136850071 (GRCh38)
9:139744523 (GRCh37)
Canonical SPDI:: NC_000009.12:136850068:TGTCTG:TG
Gene:: PHPT1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TG=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.136850071_136850074del, NC_000009.11:g.139744523_139744526del, NM_014172.6:c.219_222del, NM_014172.5:c.219_222del, NM_014172.4:c.219_222del, NM_001135861.3:c.219_222del, NM_001135861.2:c.219_222del, NM_001135861.1:c.219_222del, NR_109807.2:n.241_244del, NR_109807.1:n.834_837del, NM_001287343.2:c.219_222del, NM_001287343.1:c.219_222del, NM_001287342.2:c.225_228del, NM_001287342.1:c.225_228del, NR_109808.2:n.224_227del, NR_109808.1:n.817_820del, NM_001135860.1:c.219_222del, NP_054891.2:p.Cys73fs, NP_001129333.1:p.Cys73fs, NP_001274272.1:p.Cys73fs, NP_001274271.1:p.Cys75fs

Select item 134413674318.

rs1344136743 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:136850535 (GRCh38)
9:139744987 (GRCh37)
Canonical SPDI:: NC_000009.12:136850534:C:G
Gene:: PHPT1 (Varview), MAMDC4 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.136850535C>G, NC_000009.11:g.139744987C>G, NM_001135861.3:c.315C>G, NM_001135861.2:c.315C>G, NM_001135861.1:c.315C>G, NR_109807.2:n.705C>G, NR_109807.1:n.1298C>G, NM_001287343.2:c.318C>G, NM_001287343.1:c.318C>G, NM_001135860.1:c.*305C>G

Select item 134387507419.

rs1343875074 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:136850531 (GRCh38)
9:139744983 (GRCh37)
Canonical SPDI:: NC_000009.12:136850530:G:A
Gene:: PHPT1 (Varview), MAMDC4 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000009.12:g.136850531G>A, NC_000009.11:g.139744983G>A, NM_001135861.3:c.311G>A, NM_001135861.2:c.311G>A, NM_001135861.1:c.311G>A, NR_109807.2:n.701G>A, NR_109807.1:n.1294G>A, NM_001287343.2:c.314G>A, NM_001287343.1:c.314G>A, NM_001135860.1:c.*301G>A, NP_001129333.1:p.Gly104Asp, NP_001274272.1:p.Gly105Asp

Select item 133546409020.

rs1335464090 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 9:136850126 (GRCh38)
9:139744578 (GRCh37)
Canonical SPDI:: NC_000009.12:136850125:G:A,NC_000009.12:136850125:G:C
Gene:: PHPT1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.136850126G>A, NC_000009.12:g.136850126G>C, NC_000009.11:g.139744578G>A, NC_000009.11:g.139744578G>C, NM_014172.6:c.274G>A, NM_014172.6:c.274G>C, NM_014172.5:c.274G>A, NM_014172.5:c.274G>C, NM_014172.4:c.274G>A, NM_014172.4:c.274G>C, NM_001135861.3:c.274G>A, NM_001135861.3:c.274G>C, NM_001135861.2:c.274G>A, NM_001135861.2:c.274G>C, NM_001135861.1:c.274G>A, NM_001135861.1:c.274G>C, NR_109807.2:n.296G>A, NR_109807.2:n.296G>C, NR_109807.1:n.889G>A, NR_109807.1:n.889G>C, NM_001287343.2:c.274G>A, NM_001287343.2:c.274G>C, NM_001287343.1:c.274G>A, NM_001287343.1:c.274G>C, NM_001287342.2:c.280G>A, NM_001287342.2:c.280G>C, NM_001287342.1:c.280G>A, NM_001287342.1:c.280G>C, NR_109808.2:n.279G>A, NR_109808.2:n.279G>C, NR_109808.1:n.872G>A, NR_109808.1:n.872G>C, NM_001135860.1:c.274G>A, NM_001135860.1:c.274G>C, NP_054891.2:p.Gly92Ser, NP_054891.2:p.Gly92Arg, NP_001129333.1:p.Gly92Ser, NP_001129333.1:p.Gly92Arg, NP_001274272.1:p.Gly92Ser, NP_001274272.1:p.Gly92Arg, NP_001274271.1:p.Gly94Ser, NP_001274271.1:p.Gly94Arg

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