SNP Links for Protein (Select 27477109) - SNP

Links from Protein

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Select item 14901905641.

rs1490190564 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 20:34504344 (GRCh38)
20:33092149 (GRCh37)
Canonical SPDI:: NC_000020.11:34504343:A:T
Gene:: ITCH (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.34504344A>T, NC_000020.10:g.33092149A>T, NG_023206.1:g.146088A>T, NM_031483.7:c.2430A>T, NM_031483.6:c.2430A>T, NM_031483.5:c.2430A>T, NM_001257137.3:c.2553A>T, NM_001257137.2:c.2553A>T, NM_001257137.1:c.2553A>T, NM_001257138.3:c.2100A>T, NM_001257138.2:c.2100A>T, NM_001257138.1:c.2100A>T, NM_001324197.2:c.2553A>T, NM_001324197.1:c.2553A>T, NM_001324198.2:c.2430A>T, NM_001324198.1:c.2430A>T, XM_017028089.2:c.2553A>T, XM_017028089.1:c.2553A>T, XM_024452005.2:c.2553A>T, XM_024452005.1:c.2553A>T, XM_047440532.1:c.2430A>T, XM_047440534.1:c.2223A>T, XM_047440535.1:c.2100A>T, XM_047440533.1:c.2223A>T, XM_047440536.1:c.1920A>T, XM_047440537.1:c.1920A>T

Select item 14863592032.

rs1486359203 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 20:34413834 (GRCh38)
20:33001640 (GRCh37)
Canonical SPDI:: NC_000020.11:34413833:T:A
Gene:: ITCH (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,missense_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_000020.11:g.34413834T>A, NC_000020.10:g.33001640T>A, NG_023206.1:g.55579T>A, NM_031483.7:c.430T>A, NM_031483.6:c.430T>A, NM_031483.5:c.430T>A, NM_001257137.3:c.430T>A, NM_001257137.2:c.430T>A, NM_001257137.1:c.430T>A, NM_001257138.3:c.100T>A, NM_001257138.2:c.100T>A, NM_001257138.1:c.100T>A, NM_001324197.2:c.430T>A, NM_001324197.1:c.430T>A, NM_001324198.2:c.430T>A, NM_001324198.1:c.430T>A, XM_017028089.2:c.430T>A, XM_017028089.1:c.430T>A, XM_024452005.2:c.430T>A, XM_024452005.1:c.430T>A, XM_047440532.1:c.430T>A, XM_047440534.1:c.100T>A, XM_047440535.1:c.100T>A, XM_047440533.1:c.100T>A, XM_047440537.1:c.-35T>A, XM_047440539.1:c.430T>A, XM_047440538.1:c.430T>A, NP_113671.3:p.Leu144Ile, NP_001244066.1:p.Leu144Ile, NP_001244067.1:p.Leu34Ile, NP_001311126.1:p.Leu144Ile, NP_001311127.1:p.Leu144Ile, XP_016883578.1:p.Leu144Ile, XP_024307773.1:p.Leu144Ile, XP_047296488.1:p.Leu144Ile, XP_047296490.1:p.Leu34Ile, XP_047296491.1:p.Leu34Ile, XP_047296489.1:p.Leu34Ile, XP_047296495.1:p.Leu144Ile, XP_047296494.1:p.Leu144Ile

Select item 14856534493.

rs1485653449 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:34457460 (GRCh38)
20:33045265 (GRCh37)
Canonical SPDI:: NC_000020.11:34457459:C:T
Gene:: ITCH (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.34457460C>T, NC_000020.10:g.33045265C>T, NG_023206.1:g.99204C>T, NM_031483.7:c.1281C>T, NM_031483.6:c.1281C>T, NM_031483.5:c.1281C>T, NM_001257137.3:c.1404C>T, NM_001257137.2:c.1404C>T, NM_001257137.1:c.1404C>T, NM_001257138.3:c.951C>T, NM_001257138.2:c.951C>T, NM_001257138.1:c.951C>T, NM_001324197.2:c.1404C>T, NM_001324197.1:c.1404C>T, NM_001324198.2:c.1281C>T, NM_001324198.1:c.1281C>T, XM_017028089.2:c.1404C>T, XM_017028089.1:c.1404C>T, XM_024452005.2:c.1404C>T, XM_024452005.1:c.1404C>T, XM_047440532.1:c.1281C>T, XM_047440534.1:c.1074C>T, XM_047440535.1:c.951C>T, XM_047440533.1:c.1074C>T, XM_047440536.1:c.771C>T, XM_047440537.1:c.771C>T, XM_047440538.1:c.1404C>T

Select item 14848520774.

rs1484852077 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:34412532 (GRCh38)
20:33000338 (GRCh37)
Canonical SPDI:: NC_000020.11:34412531:G:A
Gene:: ITCH (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.34412532G>A, NC_000020.10:g.33000338G>A, NG_023206.1:g.54277G>A, NM_031483.7:c.230G>A, NM_031483.6:c.230G>A, NM_031483.5:c.230G>A, NM_001257137.3:c.230G>A, NM_001257137.2:c.230G>A, NM_001257137.1:c.230G>A, NM_001257138.3:c.-101G>A, NM_001257138.2:c.-101G>A, NM_001257138.1:c.-101G>A, NM_001324197.2:c.230G>A, NM_001324197.1:c.230G>A, NM_001324198.2:c.230G>A, NM_001324198.1:c.230G>A, XM_017028089.2:c.230G>A, XM_017028089.1:c.230G>A, XM_024452005.2:c.230G>A, XM_024452005.1:c.230G>A, XM_047440532.1:c.230G>A, XM_047440534.1:c.-101G>A, XM_047440535.1:c.-101G>A, XM_047440533.1:c.-101G>A, XM_047440539.1:c.230G>A, XM_047440538.1:c.230G>A, NP_113671.3:p.Ser77Asn, NP_001244066.1:p.Ser77Asn, NP_001311126.1:p.Ser77Asn, NP_001311127.1:p.Ser77Asn, XP_016883578.1:p.Ser77Asn, XP_024307773.1:p.Ser77Asn, XP_047296488.1:p.Ser77Asn, XP_047296495.1:p.Ser77Asn, XP_047296494.1:p.Ser77Asn

Select item 14842796935.

rs1484279693 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:34445351 (GRCh38)
20:33033156 (GRCh37)
Canonical SPDI:: NC_000020.11:34445350:A:G
Gene:: ITCH (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=0.000008/2 (TOPMED)
G=0.000342/1 (KOREAN)
HGVS:: NC_000020.11:g.34445351A>G, NC_000020.10:g.33033156A>G, NG_023206.1:g.87095A>G, NM_031483.7:c.1030A>G, NM_031483.6:c.1030A>G, NM_031483.5:c.1030A>G, NM_001257137.3:c.1153A>G, NM_001257137.2:c.1153A>G, NM_001257137.1:c.1153A>G, NM_001257138.3:c.700A>G, NM_001257138.2:c.700A>G, NM_001257138.1:c.700A>G, NM_001324197.2:c.1153A>G, NM_001324197.1:c.1153A>G, NM_001324198.2:c.1030A>G, NM_001324198.1:c.1030A>G, XM_017028089.2:c.1153A>G, XM_017028089.1:c.1153A>G, XM_024452005.2:c.1153A>G, XM_024452005.1:c.1153A>G, XM_047440532.1:c.1030A>G, XM_047440534.1:c.823A>G, XM_047440535.1:c.700A>G, XM_047440533.1:c.823A>G, XM_047440536.1:c.520A>G, XM_047440537.1:c.520A>G, XM_047440539.1:c.1153A>G, XM_047440538.1:c.1153A>G, NP_113671.3:p.Thr344Ala, NP_001244066.1:p.Thr385Ala, NP_001244067.1:p.Thr234Ala, NP_001311126.1:p.Thr385Ala, NP_001311127.1:p.Thr344Ala, XP_016883578.1:p.Thr385Ala, XP_024307773.1:p.Thr385Ala, XP_047296488.1:p.Thr344Ala, XP_047296490.1:p.Thr275Ala, XP_047296491.1:p.Thr234Ala, XP_047296489.1:p.Thr275Ala, XP_047296492.1:p.Thr174Ala, XP_047296493.1:p.Thr174Ala, XP_047296495.1:p.Thr385Ala, XP_047296494.1:p.Thr385Ala

Select item 14808814066.

rs1480881406 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:34492573 (GRCh38)
20:33080378 (GRCh37)
Canonical SPDI:: NC_000020.11:34492572:G:T
Gene:: ITCH (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.34492573G>T, NC_000020.10:g.33080378G>T, NG_023206.1:g.134317G>T, NM_031483.7:c.2392G>T, NM_031483.6:c.2392G>T, NM_031483.5:c.2392G>T, NM_001257137.3:c.2515G>T, NM_001257137.2:c.2515G>T, NM_001257137.1:c.2515G>T, NM_001257138.3:c.2062G>T, NM_001257138.2:c.2062G>T, NM_001257138.1:c.2062G>T, NM_001324197.2:c.2515G>T, NM_001324197.1:c.2515G>T, NM_001324198.2:c.2392G>T, NM_001324198.1:c.2392G>T, XM_017028089.2:c.2515G>T, XM_017028089.1:c.2515G>T, XM_024452005.2:c.2515G>T, XM_024452005.1:c.2515G>T, XM_047440532.1:c.2392G>T, XM_047440534.1:c.2185G>T, XM_047440535.1:c.2062G>T, XM_047440533.1:c.2185G>T, XM_047440536.1:c.1882G>T, XM_047440537.1:c.1882G>T, NP_113671.3:p.Val798Leu, NP_001244066.1:p.Val839Leu, NP_001244067.1:p.Val688Leu, NP_001311126.1:p.Val839Leu, NP_001311127.1:p.Val798Leu, XP_016883578.1:p.Val839Leu, XP_024307773.1:p.Val839Leu, XP_047296488.1:p.Val798Leu, XP_047296490.1:p.Val729Leu, XP_047296491.1:p.Val688Leu, XP_047296489.1:p.Val729Leu, XP_047296492.1:p.Val628Leu, XP_047296493.1:p.Val628Leu

Select item 14808227947.

rs1480822794 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:34480728 (GRCh38)
20:33068533 (GRCh37)
Canonical SPDI:: NC_000020.11:34480727:G:A
Gene:: ITCH (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.34480728G>A, NC_000020.10:g.33068533G>A, NG_023206.1:g.122472G>A, NM_031483.7:c.1948G>A, NM_031483.6:c.1948G>A, NM_031483.5:c.1948G>A, NM_001257137.3:c.2071G>A, NM_001257137.2:c.2071G>A, NM_001257137.1:c.2071G>A, NM_001257138.3:c.1618G>A, NM_001257138.2:c.1618G>A, NM_001257138.1:c.1618G>A, NM_001324197.2:c.2071G>A, NM_001324197.1:c.2071G>A, NM_001324198.2:c.1948G>A, NM_001324198.1:c.1948G>A, XM_017028089.2:c.2071G>A, XM_017028089.1:c.2071G>A, XM_024452005.2:c.2071G>A, XM_024452005.1:c.2071G>A, XM_047440532.1:c.1948G>A, XM_047440534.1:c.1741G>A, XM_047440535.1:c.1618G>A, XM_047440533.1:c.1741G>A, XM_047440536.1:c.1438G>A, XM_047440537.1:c.1438G>A, NP_113671.3:p.Val650Ile, NP_001244066.1:p.Val691Ile, NP_001244067.1:p.Val540Ile, NP_001311126.1:p.Val691Ile, NP_001311127.1:p.Val650Ile, XP_016883578.1:p.Val691Ile, XP_024307773.1:p.Val691Ile, XP_047296488.1:p.Val650Ile, XP_047296490.1:p.Val581Ile, XP_047296491.1:p.Val540Ile, XP_047296489.1:p.Val581Ile, XP_047296492.1:p.Val480Ile, XP_047296493.1:p.Val480Ile

Select item 14791860368.

rs1479186036 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:34489361 (GRCh38)
20:33077166 (GRCh37)
Canonical SPDI:: NC_000020.11:34489360:A:G
Gene:: ITCH (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.34489361A>G, NC_000020.10:g.33077166A>G, NG_023206.1:g.131105A>G, NM_031483.7:c.2189A>G, NM_031483.6:c.2189A>G, NM_031483.5:c.2189A>G, NM_001257137.3:c.2312A>G, NM_001257137.2:c.2312A>G, NM_001257137.1:c.2312A>G, NM_001257138.3:c.1859A>G, NM_001257138.2:c.1859A>G, NM_001257138.1:c.1859A>G, NM_001324197.2:c.2312A>G, NM_001324197.1:c.2312A>G, NM_001324198.2:c.2189A>G, NM_001324198.1:c.2189A>G, XM_017028089.2:c.2312A>G, XM_017028089.1:c.2312A>G, XM_024452005.2:c.2312A>G, XM_024452005.1:c.2312A>G, XM_047440532.1:c.2189A>G, XM_047440534.1:c.1982A>G, XM_047440535.1:c.1859A>G, XM_047440533.1:c.1982A>G, XM_047440536.1:c.1679A>G, XM_047440537.1:c.1679A>G, NP_113671.3:p.Gln730Arg, NP_001244066.1:p.Gln771Arg, NP_001244067.1:p.Gln620Arg, NP_001311126.1:p.Gln771Arg, NP_001311127.1:p.Gln730Arg, XP_016883578.1:p.Gln771Arg, XP_024307773.1:p.Gln771Arg, XP_047296488.1:p.Gln730Arg, XP_047296490.1:p.Gln661Arg, XP_047296491.1:p.Gln620Arg, XP_047296489.1:p.Gln661Arg, XP_047296492.1:p.Gln560Arg, XP_047296493.1:p.Gln560Arg

Select item 14745071139.

rs1474507113 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:34413799 (GRCh38)
20:33001605 (GRCh37)
Canonical SPDI:: NC_000020.11:34413798:T:C
Gene:: ITCH (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.34413799T>C, NC_000020.10:g.33001605T>C, NG_023206.1:g.55544T>C, NM_031483.7:c.395T>C, NM_031483.6:c.395T>C, NM_031483.5:c.395T>C, NM_001257137.3:c.395T>C, NM_001257137.2:c.395T>C, NM_001257137.1:c.395T>C, NM_001257138.3:c.65T>C, NM_001257138.2:c.65T>C, NM_001257138.1:c.65T>C, NM_001324197.2:c.395T>C, NM_001324197.1:c.395T>C, NM_001324198.2:c.395T>C, NM_001324198.1:c.395T>C, XM_017028089.2:c.395T>C, XM_017028089.1:c.395T>C, XM_024452005.2:c.395T>C, XM_024452005.1:c.395T>C, XM_047440532.1:c.395T>C, XM_047440534.1:c.65T>C, XM_047440535.1:c.65T>C, XM_047440533.1:c.65T>C, XM_047440537.1:c.-70T>C, XM_047440539.1:c.395T>C, XM_047440538.1:c.395T>C, NP_113671.3:p.Ile132Thr, NP_001244066.1:p.Ile132Thr, NP_001244067.1:p.Ile22Thr, NP_001311126.1:p.Ile132Thr, NP_001311127.1:p.Ile132Thr, XP_016883578.1:p.Ile132Thr, XP_024307773.1:p.Ile132Thr, XP_047296488.1:p.Ile132Thr, XP_047296490.1:p.Ile22Thr, XP_047296491.1:p.Ile22Thr, XP_047296489.1:p.Ile22Thr, XP_047296495.1:p.Ile132Thr, XP_047296494.1:p.Ile132Thr

Select item 147446206910.

rs1474462069 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 20:34492508 (GRCh38)
20:33080313 (GRCh37)
Canonical SPDI:: NC_000020.11:34492507:A:C
Gene:: ITCH (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.34492508A>C, NC_000020.10:g.33080313A>C, NG_023206.1:g.134252A>C, NM_031483.7:c.2327A>C, NM_031483.6:c.2327A>C, NM_031483.5:c.2327A>C, NM_001257137.3:c.2450A>C, NM_001257137.2:c.2450A>C, NM_001257137.1:c.2450A>C, NM_001257138.3:c.1997A>C, NM_001257138.2:c.1997A>C, NM_001257138.1:c.1997A>C, NM_001324197.2:c.2450A>C, NM_001324197.1:c.2450A>C, NM_001324198.2:c.2327A>C, NM_001324198.1:c.2327A>C, XM_017028089.2:c.2450A>C, XM_017028089.1:c.2450A>C, XM_024452005.2:c.2450A>C, XM_024452005.1:c.2450A>C, XM_047440532.1:c.2327A>C, XM_047440534.1:c.2120A>C, XM_047440535.1:c.1997A>C, XM_047440533.1:c.2120A>C, XM_047440536.1:c.1817A>C, XM_047440537.1:c.1817A>C, NP_113671.3:p.Lys776Thr, NP_001244066.1:p.Lys817Thr, NP_001244067.1:p.Lys666Thr, NP_001311126.1:p.Lys817Thr, NP_001311127.1:p.Lys776Thr, XP_016883578.1:p.Lys817Thr, XP_024307773.1:p.Lys817Thr, XP_047296488.1:p.Lys776Thr, XP_047296490.1:p.Lys707Thr, XP_047296491.1:p.Lys666Thr, XP_047296489.1:p.Lys707Thr, XP_047296492.1:p.Lys606Thr, XP_047296493.1:p.Lys606Thr

Select item 147306558611.

rs1473065586 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:34445316 (GRCh38)
20:33033121 (GRCh37)
Canonical SPDI:: NC_000020.11:34445315:G:A
Gene:: ITCH (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.34445316G>A, NC_000020.10:g.33033121G>A, NG_023206.1:g.87060G>A, NM_031483.7:c.995G>A, NM_031483.6:c.995G>A, NM_031483.5:c.995G>A, NM_001257137.3:c.1118G>A, NM_001257137.2:c.1118G>A, NM_001257137.1:c.1118G>A, NM_001257138.3:c.665G>A, NM_001257138.2:c.665G>A, NM_001257138.1:c.665G>A, NM_001324197.2:c.1118G>A, NM_001324197.1:c.1118G>A, NM_001324198.2:c.995G>A, NM_001324198.1:c.995G>A, XM_017028089.2:c.1118G>A, XM_017028089.1:c.1118G>A, XM_024452005.2:c.1118G>A, XM_024452005.1:c.1118G>A, XM_047440532.1:c.995G>A, XM_047440534.1:c.788G>A, XM_047440535.1:c.665G>A, XM_047440533.1:c.788G>A, XM_047440536.1:c.485G>A, XM_047440537.1:c.485G>A, XM_047440539.1:c.1118G>A, XM_047440538.1:c.1118G>A, NP_113671.3:p.Arg332His, NP_001244066.1:p.Arg373His, NP_001244067.1:p.Arg222His, NP_001311126.1:p.Arg373His, NP_001311127.1:p.Arg332His, XP_016883578.1:p.Arg373His, XP_024307773.1:p.Arg373His, XP_047296488.1:p.Arg332His, XP_047296490.1:p.Arg263His, XP_047296491.1:p.Arg222His, XP_047296489.1:p.Arg263His, XP_047296492.1:p.Arg162His, XP_047296493.1:p.Arg162His, XP_047296495.1:p.Arg373His, XP_047296494.1:p.Arg373His

Select item 147288869512.

rs1472888695 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:34438489 (GRCh38)
20:33026294 (GRCh37)
Canonical SPDI:: NC_000020.11:34438488:A:G
Gene:: ITCH (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.34438489A>G, NC_000020.10:g.33026294A>G, NG_023206.1:g.80233A>G, NM_031483.7:c.537A>G, NM_031483.6:c.537A>G, NM_031483.5:c.537A>G, NM_001257137.3:c.660A>G, NM_001257137.2:c.660A>G, NM_001257137.1:c.660A>G, NM_001257138.3:c.207A>G, NM_001257138.2:c.207A>G, NM_001257138.1:c.207A>G, NM_001324197.2:c.660A>G, NM_001324197.1:c.660A>G, NM_001324198.2:c.537A>G, NM_001324198.1:c.537A>G, XM_017028089.2:c.660A>G, XM_017028089.1:c.660A>G, XM_024452005.2:c.660A>G, XM_024452005.1:c.660A>G, XM_047440532.1:c.537A>G, XM_047440534.1:c.330A>G, XM_047440535.1:c.207A>G, XM_047440533.1:c.330A>G, XM_047440536.1:c.27A>G, XM_047440537.1:c.27A>G, XM_047440539.1:c.660A>G, XM_047440538.1:c.660A>G

Select item 147199060113.

rs1471990601 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:34477825 (GRCh38)
20:33065630 (GRCh37)
Canonical SPDI:: NC_000020.11:34477824:A:G
Gene:: ITCH (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.34477825A>G, NC_000020.10:g.33065630A>G, NG_023206.1:g.119569A>G, NM_031483.7:c.1623A>G, NM_031483.6:c.1623A>G, NM_031483.5:c.1623A>G, NM_001257137.3:c.1746A>G, NM_001257137.2:c.1746A>G, NM_001257137.1:c.1746A>G, NM_001257138.3:c.1293A>G, NM_001257138.2:c.1293A>G, NM_001257138.1:c.1293A>G, NM_001324197.2:c.1746A>G, NM_001324197.1:c.1746A>G, NM_001324198.2:c.1623A>G, NM_001324198.1:c.1623A>G, XM_017028089.2:c.1746A>G, XM_017028089.1:c.1746A>G, XM_024452005.2:c.1746A>G, XM_024452005.1:c.1746A>G, XM_047440532.1:c.1623A>G, XM_047440534.1:c.1416A>G, XM_047440535.1:c.1293A>G, XM_047440533.1:c.1416A>G, XM_047440536.1:c.1113A>G, XM_047440537.1:c.1113A>G, XM_047440538.1:c.1746A>G

Select item 147045404714.

rs1470454047 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:34480651 (GRCh38)
20:33068456 (GRCh37)
Canonical SPDI:: NC_000020.11:34480650:A:G
Gene:: ITCH (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.34480651A>G, NC_000020.10:g.33068456A>G, NG_023206.1:g.122395A>G, NM_031483.7:c.1871A>G, NM_031483.6:c.1871A>G, NM_031483.5:c.1871A>G, NM_001257137.3:c.1994A>G, NM_001257137.2:c.1994A>G, NM_001257137.1:c.1994A>G, NM_001257138.3:c.1541A>G, NM_001257138.2:c.1541A>G, NM_001257138.1:c.1541A>G, NM_001324197.2:c.1994A>G, NM_001324197.1:c.1994A>G, NM_001324198.2:c.1871A>G, NM_001324198.1:c.1871A>G, XM_017028089.2:c.1994A>G, XM_017028089.1:c.1994A>G, XM_024452005.2:c.1994A>G, XM_024452005.1:c.1994A>G, XM_047440532.1:c.1871A>G, XM_047440534.1:c.1664A>G, XM_047440535.1:c.1541A>G, XM_047440533.1:c.1664A>G, XM_047440536.1:c.1361A>G, XM_047440537.1:c.1361A>G, NP_113671.3:p.Lys624Arg, NP_001244066.1:p.Lys665Arg, NP_001244067.1:p.Lys514Arg, NP_001311126.1:p.Lys665Arg, NP_001311127.1:p.Lys624Arg, XP_016883578.1:p.Lys665Arg, XP_024307773.1:p.Lys665Arg, XP_047296488.1:p.Lys624Arg, XP_047296490.1:p.Lys555Arg, XP_047296491.1:p.Lys514Arg, XP_047296489.1:p.Lys555Arg, XP_047296492.1:p.Lys454Arg, XP_047296493.1:p.Lys454Arg

Select item 147033216215.

rs1470332162 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 20:34479673 (GRCh38)
20:33067478 (GRCh37)
Canonical SPDI:: NC_000020.11:34479672:T:G
Gene:: ITCH (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.34479673T>G, NC_000020.10:g.33067478T>G, NG_023206.1:g.121417T>G, NM_031483.7:c.1702T>G, NM_031483.6:c.1702T>G, NM_031483.5:c.1702T>G, NM_001257137.3:c.1825T>G, NM_001257137.2:c.1825T>G, NM_001257137.1:c.1825T>G, NM_001257138.3:c.1372T>G, NM_001257138.2:c.1372T>G, NM_001257138.1:c.1372T>G, NM_001324197.2:c.1825T>G, NM_001324197.1:c.1825T>G, NM_001324198.2:c.1702T>G, NM_001324198.1:c.1702T>G, XM_017028089.2:c.1825T>G, XM_017028089.1:c.1825T>G, XM_024452005.2:c.1825T>G, XM_024452005.1:c.1825T>G, XM_047440532.1:c.1702T>G, XM_047440534.1:c.1495T>G, XM_047440535.1:c.1372T>G, XM_047440533.1:c.1495T>G, XM_047440536.1:c.1192T>G, XM_047440537.1:c.1192T>G, XM_047440538.1:c.*86T>G, NP_113671.3:p.Tyr568Asp, NP_001244066.1:p.Tyr609Asp, NP_001244067.1:p.Tyr458Asp, NP_001311126.1:p.Tyr609Asp, NP_001311127.1:p.Tyr568Asp, XP_016883578.1:p.Tyr609Asp, XP_024307773.1:p.Tyr609Asp, XP_047296488.1:p.Tyr568Asp, XP_047296490.1:p.Tyr499Asp, XP_047296491.1:p.Tyr458Asp, XP_047296489.1:p.Tyr499Asp, XP_047296492.1:p.Tyr398Asp, XP_047296493.1:p.Tyr398Asp

Select item 146840675316.

rs1468406753 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 20:34438619 (GRCh38)
20:33026424 (GRCh37)
Canonical SPDI:: NC_000020.11:34438618:C:A,NC_000020.11:34438618:C:G
Gene:: ITCH (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.34438619C>A, NC_000020.11:g.34438619C>G, NC_000020.10:g.33026424C>A, NC_000020.10:g.33026424C>G, NG_023206.1:g.80363C>A, NG_023206.1:g.80363C>G, NM_031483.7:c.667C>A, NM_031483.7:c.667C>G, NM_031483.6:c.667C>A, NM_031483.6:c.667C>G, NM_031483.5:c.667C>A, NM_031483.5:c.667C>G, NM_001257137.3:c.790C>A, NM_001257137.3:c.790C>G, NM_001257137.2:c.790C>A, NM_001257137.2:c.790C>G, NM_001257137.1:c.790C>A, NM_001257137.1:c.790C>G, NM_001257138.3:c.337C>A, NM_001257138.3:c.337C>G, NM_001257138.2:c.337C>A, NM_001257138.2:c.337C>G, NM_001257138.1:c.337C>A, NM_001257138.1:c.337C>G, NM_001324197.2:c.790C>A, NM_001324197.2:c.790C>G, NM_001324197.1:c.790C>A, NM_001324197.1:c.790C>G, NM_001324198.2:c.667C>A, NM_001324198.2:c.667C>G, NM_001324198.1:c.667C>A, NM_001324198.1:c.667C>G, XM_017028089.2:c.790C>A, XM_017028089.2:c.790C>G, XM_017028089.1:c.790C>A, XM_017028089.1:c.790C>G, XM_024452005.2:c.790C>A, XM_024452005.2:c.790C>G, XM_024452005.1:c.790C>A, XM_024452005.1:c.790C>G, XM_047440532.1:c.667C>A, XM_047440532.1:c.667C>G, XM_047440534.1:c.460C>A, XM_047440534.1:c.460C>G, XM_047440535.1:c.337C>A, XM_047440535.1:c.337C>G, XM_047440533.1:c.460C>A, XM_047440533.1:c.460C>G, XM_047440536.1:c.157C>A, XM_047440536.1:c.157C>G, XM_047440537.1:c.157C>A, XM_047440537.1:c.157C>G, XM_047440539.1:c.790C>A, XM_047440539.1:c.790C>G, XM_047440538.1:c.790C>A, XM_047440538.1:c.790C>G, NP_113671.3:p.Pro223Thr, NP_113671.3:p.Pro223Ala, NP_001244066.1:p.Pro264Thr, NP_001244066.1:p.Pro264Ala, NP_001244067.1:p.Pro113Thr, NP_001244067.1:p.Pro113Ala, NP_001311126.1:p.Pro264Thr, NP_001311126.1:p.Pro264Ala, NP_001311127.1:p.Pro223Thr, NP_001311127.1:p.Pro223Ala, XP_016883578.1:p.Pro264Thr, XP_016883578.1:p.Pro264Ala, XP_024307773.1:p.Pro264Thr, XP_024307773.1:p.Pro264Ala, XP_047296488.1:p.Pro223Thr, XP_047296488.1:p.Pro223Ala, XP_047296490.1:p.Pro154Thr, XP_047296490.1:p.Pro154Ala, XP_047296491.1:p.Pro113Thr, XP_047296491.1:p.Pro113Ala, XP_047296489.1:p.Pro154Thr, XP_047296489.1:p.Pro154Ala, XP_047296492.1:p.Pro53Thr, XP_047296492.1:p.Pro53Ala, XP_047296493.1:p.Pro53Thr, XP_047296493.1:p.Pro53Ala, XP_047296495.1:p.Pro264Thr, XP_047296495.1:p.Pro264Ala, XP_047296494.1:p.Pro264Thr, XP_047296494.1:p.Pro264Ala

Select item 146163778317.

rs1461637783 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 20:34445302 (GRCh38)
20:33033107 (GRCh37)
Canonical SPDI:: NC_000020.11:34445301:T:A,NC_000020.11:34445301:T:C
Gene:: ITCH (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.34445302T>A, NC_000020.11:g.34445302T>C, NC_000020.10:g.33033107T>A, NC_000020.10:g.33033107T>C, NG_023206.1:g.87046T>A, NG_023206.1:g.87046T>C, NM_031483.7:c.981T>A, NM_031483.7:c.981T>C, NM_031483.6:c.981T>A, NM_031483.6:c.981T>C, NM_031483.5:c.981T>A, NM_031483.5:c.981T>C, NM_001257137.3:c.1104T>A, NM_001257137.3:c.1104T>C, NM_001257137.2:c.1104T>A, NM_001257137.2:c.1104T>C, NM_001257137.1:c.1104T>A, NM_001257137.1:c.1104T>C, NM_001257138.3:c.651T>A, NM_001257138.3:c.651T>C, NM_001257138.2:c.651T>A, NM_001257138.2:c.651T>C, NM_001257138.1:c.651T>A, NM_001257138.1:c.651T>C, NM_001324197.2:c.1104T>A, NM_001324197.2:c.1104T>C, NM_001324197.1:c.1104T>A, NM_001324197.1:c.1104T>C, NM_001324198.2:c.981T>A, NM_001324198.2:c.981T>C, NM_001324198.1:c.981T>A, NM_001324198.1:c.981T>C, XM_017028089.2:c.1104T>A, XM_017028089.2:c.1104T>C, XM_017028089.1:c.1104T>A, XM_017028089.1:c.1104T>C, XM_024452005.2:c.1104T>A, XM_024452005.2:c.1104T>C, XM_024452005.1:c.1104T>A, XM_024452005.1:c.1104T>C, XM_047440532.1:c.981T>A, XM_047440532.1:c.981T>C, XM_047440534.1:c.774T>A, XM_047440534.1:c.774T>C, XM_047440535.1:c.651T>A, XM_047440535.1:c.651T>C, XM_047440533.1:c.774T>A, XM_047440533.1:c.774T>C, XM_047440536.1:c.471T>A, XM_047440536.1:c.471T>C, XM_047440537.1:c.471T>A, XM_047440537.1:c.471T>C, XM_047440539.1:c.1104T>A, XM_047440539.1:c.1104T>C, XM_047440538.1:c.1104T>A, XM_047440538.1:c.1104T>C

Select item 146013862518.

rs1460138625 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:34445399 (GRCh38)
20:33033204 (GRCh37)
Canonical SPDI:: NC_000020.11:34445398:C:G
Gene:: ITCH (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.34445399C>G, NC_000020.10:g.33033204C>G, NG_023206.1:g.87143C>G, NM_031483.7:c.1078C>G, NM_031483.6:c.1078C>G, NM_031483.5:c.1078C>G, NM_001257137.3:c.1201C>G, NM_001257137.2:c.1201C>G, NM_001257137.1:c.1201C>G, NM_001257138.3:c.748C>G, NM_001257138.2:c.748C>G, NM_001257138.1:c.748C>G, NM_001324197.2:c.1201C>G, NM_001324197.1:c.1201C>G, NM_001324198.2:c.1078C>G, NM_001324198.1:c.1078C>G, XM_017028089.2:c.1201C>G, XM_017028089.1:c.1201C>G, XM_024452005.2:c.1201C>G, XM_024452005.1:c.1201C>G, XM_047440532.1:c.1078C>G, XM_047440534.1:c.871C>G, XM_047440535.1:c.748C>G, XM_047440533.1:c.871C>G, XM_047440536.1:c.568C>G, XM_047440537.1:c.568C>G, XM_047440539.1:c.1201C>G, XM_047440538.1:c.1201C>G, NP_113671.3:p.Gln360Glu, NP_001244066.1:p.Gln401Glu, NP_001244067.1:p.Gln250Glu, NP_001311126.1:p.Gln401Glu, NP_001311127.1:p.Gln360Glu, XP_016883578.1:p.Gln401Glu, XP_024307773.1:p.Gln401Glu, XP_047296488.1:p.Gln360Glu, XP_047296490.1:p.Gln291Glu, XP_047296491.1:p.Gln250Glu, XP_047296489.1:p.Gln291Glu, XP_047296492.1:p.Gln190Glu, XP_047296493.1:p.Gln190Glu, XP_047296495.1:p.Gln401Glu, XP_047296494.1:p.Gln401Glu

Select item 145797500219.

rs1457975002 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:34507703 (GRCh38)
20:33095508 (GRCh37)
Canonical SPDI:: NC_000020.11:34507702:G:A
Gene:: ITCH (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.34507703G>A, NC_000020.10:g.33095508G>A, NG_023206.1:g.149447G>A, NM_031483.7:c.2498G>A, NM_031483.6:c.2498G>A, NM_031483.5:c.2498G>A, NM_001257137.3:c.2621G>A, NM_001257137.2:c.2621G>A, NM_001257137.1:c.2621G>A, NM_001257138.3:c.2168G>A, NM_001257138.2:c.2168G>A, NM_001257138.1:c.2168G>A, NM_001324197.2:c.2621G>A, NM_001324197.1:c.2621G>A, NM_001324198.2:c.2498G>A, NM_001324198.1:c.2498G>A, XM_017028089.2:c.2621G>A, XM_017028089.1:c.2621G>A, XM_024452005.2:c.2621G>A, XM_024452005.1:c.2621G>A, XM_047440532.1:c.2498G>A, XM_047440534.1:c.2291G>A, XM_047440535.1:c.2168G>A, XM_047440533.1:c.2291G>A, XM_047440536.1:c.1988G>A, XM_047440537.1:c.1988G>A, NP_113671.3:p.Arg833His, NP_001244066.1:p.Arg874His, NP_001244067.1:p.Arg723His, NP_001311126.1:p.Arg874His, NP_001311127.1:p.Arg833His, XP_016883578.1:p.Arg874His, XP_024307773.1:p.Arg874His, XP_047296488.1:p.Arg833His, XP_047296490.1:p.Arg764His, XP_047296491.1:p.Arg723His, XP_047296489.1:p.Arg764His, XP_047296492.1:p.Arg663His, XP_047296493.1:p.Arg663His

Select item 145365413120.

rs1453654131 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:34408683 (GRCh38)
20:32996489 (GRCh37)
Canonical SPDI:: NC_000020.11:34408682:A:G
Gene:: ITCH (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.001119/5 (ALFA)
G=0.000021/3 (GnomAD)
G=0.001116/5 (Estonian)
HGVS:: NC_000020.11:g.34408683A>G, NC_000020.10:g.32996489A>G, NG_023206.1:g.50428A>G, NM_031483.7:c.103A>G, NM_031483.6:c.103A>G, NM_031483.5:c.103A>G, NM_001257137.3:c.103A>G, NM_001257137.2:c.103A>G, NM_001257137.1:c.103A>G, NM_001324197.2:c.103A>G, NM_001324197.1:c.103A>G, NM_001324198.2:c.103A>G, NM_001324198.1:c.103A>G, XM_017028089.2:c.103A>G, XM_017028089.1:c.103A>G, XM_024452005.2:c.103A>G, XM_024452005.1:c.103A>G, XM_047440532.1:c.103A>G, XM_047440534.1:c.-228A>G, XM_047440535.1:c.-228A>G, XM_047440533.1:c.-228A>G, XM_047440539.1:c.103A>G, XM_047440538.1:c.103A>G, NP_113671.3:p.Asn35Asp, NP_001244066.1:p.Asn35Asp, NP_001311126.1:p.Asn35Asp, NP_001311127.1:p.Asn35Asp, XP_016883578.1:p.Asn35Asp, XP_024307773.1:p.Asn35Asp, XP_047296488.1:p.Asn35Asp, XP_047296495.1:p.Asn35Asp, XP_047296494.1:p.Asn35Asp

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