SNP Links for Protein (Select 767932611) - SNP

Select item 14907026641.

rs1490702664 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:125450765 (GRCh38)
4:126371920 (GRCh37)
Canonical SPDI:: NC_000004.12:125450764:T:C
Gene:: FAT4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000447/2 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000446/2 (Estonian)
HGVS:: NC_000004.12:g.125450765T>C, NC_000004.11:g.126371920T>C, NG_033865.1:g.139354T>C, NM_024582.6:c.9749T>C, NM_024582.5:c.9749T>C, NM_024582.4:c.9749T>C, NM_001291303.3:c.9755T>C, NM_001291303.2:c.9755T>C, NM_001291303.1:c.9755T>C, NM_001291285.3:c.9755T>C, NM_001291285.2:c.9755T>C, NM_001291285.1:c.9755T>C, XM_011532237.3:c.4526T>C, XM_011532237.2:c.4526T>C, XM_011532237.1:c.4526T>C, XM_047416151.1:c.9755T>C, XM_047416153.1:c.9755T>C, NP_078858.4:p.Ile3250Thr, NP_001278232.1:p.Ile3252Thr, NP_001278214.1:p.Ile3252Thr, XP_011530539.1:p.Ile1509Thr, XP_047272107.1:p.Ile3252Thr, XP_047272109.1:p.Ile3252Thr

Select item 14900111432.

rs1490011143 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:125491184 (GRCh38)
4:126412339 (GRCh37)
Canonical SPDI:: NC_000004.12:125491183:T:C
Gene:: FAT4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: C=0.000094/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.125491184T>C, NC_000004.11:g.126412339T>C, NG_033865.1:g.179773T>C, NM_024582.6:c.14362T>C, NM_024582.5:c.14362T>C, NM_024582.4:c.14362T>C, NM_001291303.3:c.14368T>C, NM_001291303.2:c.14368T>C, NM_001291303.1:c.14368T>C, NM_001291285.3:c.14365T>C, NM_001291285.2:c.14365T>C, NM_001291285.1:c.14365T>C, XM_011532237.3:c.9139T>C, XM_011532237.2:c.9139T>C, XM_011532237.1:c.9139T>C, XM_047416151.1:c.14368T>C, XM_047416153.1:c.14365T>C, NP_078858.4:p.Ser4788Pro, NP_001278232.1:p.Ser4790Pro, NP_001278214.1:p.Ser4789Pro, XP_011530539.1:p.Ser3047Pro, XP_047272107.1:p.Ser4790Pro, XP_047272109.1:p.Ser4789Pro

Select item 14897781703.

rs1489778170 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:125450584 (GRCh38)
4:126371739 (GRCh37)
Canonical SPDI:: NC_000004.12:125450583:A:G
Gene:: FAT4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.125450584A>G, NC_000004.11:g.126371739A>G, NG_033865.1:g.139173A>G, NM_024582.6:c.9568A>G, NM_024582.5:c.9568A>G, NM_024582.4:c.9568A>G, NM_001291303.3:c.9574A>G, NM_001291303.2:c.9574A>G, NM_001291303.1:c.9574A>G, NM_001291285.3:c.9574A>G, NM_001291285.2:c.9574A>G, NM_001291285.1:c.9574A>G, XM_011532237.3:c.4345A>G, XM_011532237.2:c.4345A>G, XM_011532237.1:c.4345A>G, XM_047416151.1:c.9574A>G, XM_047416153.1:c.9574A>G, NP_078858.4:p.Asn3190Asp, NP_001278232.1:p.Asn3192Asp, NP_001278214.1:p.Asn3192Asp, XP_011530539.1:p.Asn1449Asp, XP_047272107.1:p.Asn3192Asp, XP_047272109.1:p.Asn3192Asp

Select item 14895651444.

rs1489565144 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:125490107 (GRCh38)
4:126411262 (GRCh37)
Canonical SPDI:: NC_000004.12:125490106:G:T
Gene:: FAT4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.125490107G>T, NC_000004.11:g.126411262G>T, NG_033865.1:g.178696G>T, NM_024582.6:c.13285G>T, NM_024582.5:c.13285G>T, NM_024582.4:c.13285G>T, NM_001291303.3:c.13291G>T, NM_001291303.2:c.13291G>T, NM_001291303.1:c.13291G>T, NM_001291285.3:c.13288G>T, NM_001291285.2:c.13288G>T, NM_001291285.1:c.13288G>T, XM_011532237.3:c.8062G>T, XM_011532237.2:c.8062G>T, XM_011532237.1:c.8062G>T, XM_047416151.1:c.13291G>T, XM_047416153.1:c.13288G>T, NP_078858.4:p.Asp4429Tyr, NP_001278232.1:p.Asp4431Tyr, NP_001278214.1:p.Asp4430Tyr, XP_011530539.1:p.Asp2688Tyr, XP_047272107.1:p.Asp4431Tyr, XP_047272109.1:p.Asp4430Tyr

Select item 14892610655.

rs1489261065 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 4:125449064 (GRCh38)
4:126370219 (GRCh37)
Canonical SPDI:: NC_000004.12:125449063:CCCC:CCC
Gene:: FAT4 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.125449067del, NC_000004.11:g.126370222del, NG_033865.1:g.137656del, NM_024582.6:c.8051del, NM_024582.5:c.8051del, NM_024582.4:c.8051del, NM_001291303.3:c.8057del, NM_001291303.2:c.8057del, NM_001291303.1:c.8057del, NM_001291285.3:c.8057del, NM_001291285.2:c.8057del, NM_001291285.1:c.8057del, XM_011532237.3:c.2828del, XM_011532237.2:c.2828del, XM_011532237.1:c.2828del, XM_047416151.1:c.8057del, XM_047416153.1:c.8057del, NP_078858.4:p.Pro2684fs, NP_001278232.1:p.Pro2686fs, NP_001278214.1:p.Pro2686fs, XP_011530539.1:p.Pro943fs, XP_047272107.1:p.Pro2686fs, XP_047272109.1:p.Pro2686fs

Select item 14885876046.

rs1488587604 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:125452649 (GRCh38)
4:126373804 (GRCh37)
Canonical SPDI:: NC_000004.12:125452648:A:G
Gene:: FAT4 (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)
G=0.000038/10 (TOPMED)
HGVS:: NC_000004.12:g.125452649A>G, NC_000004.11:g.126373804A>G, NG_033865.1:g.141238A>G, NM_024582.6:c.11633A>G, NM_024582.5:c.11633A>G, NM_024582.4:c.11633A>G, NM_001291303.3:c.11639A>G, NM_001291303.2:c.11639A>G, NM_001291303.1:c.11639A>G, NM_001291285.3:c.11639A>G, NM_001291285.2:c.11639A>G, NM_001291285.1:c.11639A>G, XM_011532237.3:c.6410A>G, XM_011532237.2:c.6410A>G, XM_011532237.1:c.6410A>G, XM_047416151.1:c.11639A>G, XM_047416153.1:c.11639A>G, NP_078858.4:p.His3878Arg, NP_001278232.1:p.His3880Arg, NP_001278214.1:p.His3880Arg, XP_011530539.1:p.His2137Arg, XP_047272107.1:p.His3880Arg, XP_047272109.1:p.His3880Arg

Select item 14870754377.

rs1487075437 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:125479855 (GRCh38)
4:126401010 (GRCh37)
Canonical SPDI:: NC_000004.12:125479854:C:A
Gene:: FAT4 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
HGVS:: NC_000004.12:g.125479855C>A, NC_000004.11:g.126401010C>A, NG_033865.1:g.168444C>A, NM_024582.6:c.12588C>A, NM_024582.5:c.12588C>A, NM_024582.4:c.12588C>A, NM_001291303.3:c.12594C>A, NM_001291303.2:c.12594C>A, NM_001291303.1:c.12594C>A, NM_001291285.3:c.12594C>A, NM_001291285.2:c.12594C>A, NM_001291285.1:c.12594C>A, XM_011532237.3:c.7365C>A, XM_011532237.2:c.7365C>A, XM_011532237.1:c.7365C>A, XM_047416151.1:c.12594C>A, XM_047416153.1:c.12594C>A, NP_078858.4:p.Tyr4196Ter, NP_001278232.1:p.Tyr4198Ter, NP_001278214.1:p.Tyr4198Ter, XP_011530539.1:p.Tyr2455Ter, XP_047272107.1:p.Tyr4198Ter, XP_047272109.1:p.Tyr4198Ter

Select item 14864293608.

rs1486429360 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:125449596 (GRCh38)
4:126370751 (GRCh37)
Canonical SPDI:: NC_000004.12:125449595:A:G
Gene:: FAT4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.125449596A>G, NC_000004.11:g.126370751A>G, NG_033865.1:g.138185A>G, NM_024582.6:c.8580A>G, NM_024582.5:c.8580A>G, NM_024582.4:c.8580A>G, NM_001291303.3:c.8586A>G, NM_001291303.2:c.8586A>G, NM_001291303.1:c.8586A>G, NM_001291285.3:c.8586A>G, NM_001291285.2:c.8586A>G, NM_001291285.1:c.8586A>G, XM_011532237.3:c.3357A>G, XM_011532237.2:c.3357A>G, XM_011532237.1:c.3357A>G, XM_047416151.1:c.8586A>G, XM_047416153.1:c.8586A>G, NP_078858.4:p.Ile2860Met, NP_001278232.1:p.Ile2862Met, NP_001278214.1:p.Ile2862Met, XP_011530539.1:p.Ile1119Met, XP_047272107.1:p.Ile2862Met, XP_047272109.1:p.Ile2862Met

Select item 14855692179.

rs1485569217 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:125490521 (GRCh38)
4:126411676 (GRCh37)
Canonical SPDI:: NC_000004.12:125490520:G:A
Gene:: FAT4 (Varview)
Functional Consequence:: 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_000004.12:g.125490521G>A, NC_000004.11:g.126411676G>A, NG_033865.1:g.179110G>A, NM_024582.6:c.13699G>A, NM_024582.5:c.13699G>A, NM_024582.4:c.13699G>A, NM_001291303.3:c.13705G>A, NM_001291303.2:c.13705G>A, NM_001291303.1:c.13705G>A, NM_001291285.3:c.13702G>A, NM_001291285.2:c.13702G>A, NM_001291285.1:c.13702G>A, XM_011532237.3:c.8476G>A, XM_011532237.2:c.8476G>A, XM_011532237.1:c.8476G>A, XM_047416151.1:c.13705G>A, XM_047416153.1:c.13702G>A, NP_078858.4:p.Asp4567Asn, NP_001278232.1:p.Asp4569Asn, NP_001278214.1:p.Asp4568Asn, XP_011530539.1:p.Asp2826Asn, XP_047272107.1:p.Asp4569Asn, XP_047272109.1:p.Asp4568Asn

Select item 148516365310.

rs1485163653 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:125491138 (GRCh38)
4:126412293 (GRCh37)
Canonical SPDI:: NC_000004.12:125491137:G:A
Gene:: FAT4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000004.12:g.125491138G>A, NC_000004.11:g.126412293G>A, NG_033865.1:g.179727G>A, NM_024582.6:c.14316G>A, NM_024582.5:c.14316G>A, NM_024582.4:c.14316G>A, NM_001291303.3:c.14322G>A, NM_001291303.2:c.14322G>A, NM_001291303.1:c.14322G>A, NM_001291285.3:c.14319G>A, NM_001291285.2:c.14319G>A, NM_001291285.1:c.14319G>A, XM_011532237.3:c.9093G>A, XM_011532237.2:c.9093G>A, XM_011532237.1:c.9093G>A, XM_047416151.1:c.14322G>A, XM_047416153.1:c.14319G>A

Select item 148314131811.

rs1483141318 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:125452777 (GRCh38)
4:126373932 (GRCh37)
Canonical SPDI:: NC_000004.12:125452776:A:G
Gene:: FAT4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.125452777A>G, NC_000004.11:g.126373932A>G, NG_033865.1:g.141366A>G, NM_024582.6:c.11761A>G, NM_024582.5:c.11761A>G, NM_024582.4:c.11761A>G, NM_001291303.3:c.11767A>G, NM_001291303.2:c.11767A>G, NM_001291303.1:c.11767A>G, NM_001291285.3:c.11767A>G, NM_001291285.2:c.11767A>G, NM_001291285.1:c.11767A>G, XM_011532237.3:c.6538A>G, XM_011532237.2:c.6538A>G, XM_011532237.1:c.6538A>G, XM_047416151.1:c.11767A>G, XM_047416153.1:c.11767A>G, NP_078858.4:p.Ser3921Gly, NP_001278232.1:p.Ser3923Gly, NP_001278214.1:p.Ser3923Gly, XP_011530539.1:p.Ser2180Gly, XP_047272107.1:p.Ser3923Gly, XP_047272109.1:p.Ser3923Gly

Select item 148259068212.

rs1482590682 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:125451295 (GRCh38)
4:126372450 (GRCh37)
Canonical SPDI:: NC_000004.12:125451294:A:C
Gene:: FAT4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.125451295A>C, NC_000004.11:g.126372450A>C, NG_033865.1:g.139884A>C, NM_024582.6:c.10279A>C, NM_024582.5:c.10279A>C, NM_024582.4:c.10279A>C, NM_001291303.3:c.10285A>C, NM_001291303.2:c.10285A>C, NM_001291303.1:c.10285A>C, NM_001291285.3:c.10285A>C, NM_001291285.2:c.10285A>C, NM_001291285.1:c.10285A>C, XM_011532237.3:c.5056A>C, XM_011532237.2:c.5056A>C, XM_011532237.1:c.5056A>C, XM_047416151.1:c.10285A>C, XM_047416153.1:c.10285A>C, NP_078858.4:p.Ser3427Arg, NP_001278232.1:p.Ser3429Arg, NP_001278214.1:p.Ser3429Arg, XP_011530539.1:p.Ser1686Arg, XP_047272107.1:p.Ser3429Arg, XP_047272109.1:p.Ser3429Arg

Select item 148233354413.

rs1482333544 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:125490279 (GRCh38)
4:126411434 (GRCh37)
Canonical SPDI:: NC_000004.12:125490278:G:A,NC_000004.12:125490278:G:T
Gene:: FAT4 (Varview)
Functional Consequence:: missense_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_000004.12:g.125490279G>A, NC_000004.12:g.125490279G>T, NC_000004.11:g.126411434G>A, NC_000004.11:g.126411434G>T, NG_033865.1:g.178868G>A, NG_033865.1:g.178868G>T, NM_024582.6:c.13457G>A, NM_024582.6:c.13457G>T, NM_024582.5:c.13457G>A, NM_024582.5:c.13457G>T, NM_024582.4:c.13457G>A, NM_024582.4:c.13457G>T, NM_001291303.3:c.13463G>A, NM_001291303.3:c.13463G>T, NM_001291303.2:c.13463G>A, NM_001291303.2:c.13463G>T, NM_001291303.1:c.13463G>A, NM_001291303.1:c.13463G>T, NM_001291285.3:c.13460G>A, NM_001291285.3:c.13460G>T, NM_001291285.2:c.13460G>A, NM_001291285.2:c.13460G>T, NM_001291285.1:c.13460G>A, NM_001291285.1:c.13460G>T, XM_011532237.3:c.8234G>A, XM_011532237.3:c.8234G>T, XM_011532237.2:c.8234G>A, XM_011532237.2:c.8234G>T, XM_011532237.1:c.8234G>A, XM_011532237.1:c.8234G>T, XM_047416151.1:c.13463G>A, XM_047416151.1:c.13463G>T, XM_047416153.1:c.13460G>A, XM_047416153.1:c.13460G>T, NP_078858.4:p.Gly4486Glu, NP_078858.4:p.Gly4486Val, NP_001278232.1:p.Gly4488Glu, NP_001278232.1:p.Gly4488Val, NP_001278214.1:p.Gly4487Glu, NP_001278214.1:p.Gly4487Val, XP_011530539.1:p.Gly2745Glu, XP_011530539.1:p.Gly2745Val, XP_047272107.1:p.Gly4488Glu, XP_047272107.1:p.Gly4488Val, XP_047272109.1:p.Gly4487Glu, XP_047272109.1:p.Gly4487Val

Select item 148215390114.

rs1482153901 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 4:125408708 (GRCh38)
4:126329863 (GRCh37)
Canonical SPDI:: NC_000004.12:125408707:G:A,NC_000004.12:125408707:G:C,NC_000004.12:125408707:G:T
Gene:: FAT4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.125408708G>A, NC_000004.12:g.125408708G>C, NC_000004.12:g.125408708G>T, NC_000004.11:g.126329863G>A, NC_000004.11:g.126329863G>C, NC_000004.11:g.126329863G>T, NG_033865.1:g.97297G>A, NG_033865.1:g.97297G>C, NG_033865.1:g.97297G>T, NM_024582.6:c.5834G>A, NM_024582.6:c.5834G>C, NM_024582.6:c.5834G>T, NM_024582.5:c.5834G>A, NM_024582.5:c.5834G>C, NM_024582.5:c.5834G>T, NM_024582.4:c.5834G>A, NM_024582.4:c.5834G>C, NM_024582.4:c.5834G>T, NM_001291303.3:c.5834G>A, NM_001291303.3:c.5834G>C, NM_001291303.3:c.5834G>T, NM_001291303.2:c.5834G>A, NM_001291303.2:c.5834G>C, NM_001291303.2:c.5834G>T, NM_001291303.1:c.5834G>A, NM_001291303.1:c.5834G>C, NM_001291303.1:c.5834G>T, NM_001291285.3:c.5834G>A, NM_001291285.3:c.5834G>C, NM_001291285.3:c.5834G>T, NM_001291285.2:c.5834G>A, NM_001291285.2:c.5834G>C, NM_001291285.2:c.5834G>T, NM_001291285.1:c.5834G>A, NM_001291285.1:c.5834G>C, NM_001291285.1:c.5834G>T, XM_011532237.3:c.605G>A, XM_011532237.3:c.605G>C, XM_011532237.3:c.605G>T, XM_011532237.2:c.605G>A, XM_011532237.2:c.605G>C, XM_011532237.2:c.605G>T, XM_011532237.1:c.605G>A, XM_011532237.1:c.605G>C, XM_011532237.1:c.605G>T, XM_047416151.1:c.5834G>A, XM_047416151.1:c.5834G>C, XM_047416151.1:c.5834G>T, XM_047416153.1:c.5834G>A, XM_047416153.1:c.5834G>C, XM_047416153.1:c.5834G>T, NP_078858.4:p.Ser1945Asn, NP_078858.4:p.Ser1945Thr, NP_078858.4:p.Ser1945Ile, NP_001278232.1:p.Ser1945Asn, NP_001278232.1:p.Ser1945Thr, NP_001278232.1:p.Ser1945Ile, NP_001278214.1:p.Ser1945Asn, NP_001278214.1:p.Ser1945Thr, NP_001278214.1:p.Ser1945Ile, XP_011530539.1:p.Ser202Asn, XP_011530539.1:p.Ser202Thr, XP_011530539.1:p.Ser202Ile, XP_047272107.1:p.Ser1945Asn, XP_047272107.1:p.Ser1945Thr, XP_047272107.1:p.Ser1945Ile, XP_047272109.1:p.Ser1945Asn, XP_047272109.1:p.Ser1945Thr, XP_047272109.1:p.Ser1945Ile

Select item 148214974215.

rs1482149742 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 4:125449792 (GRCh38)
4:126370947 (GRCh37)
Canonical SPDI:: NC_000004.12:125449791:G:
Gene:: FAT4 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.125449792del, NC_000004.11:g.126370947del, NG_033865.1:g.138381del, NM_024582.6:c.8776del, NM_024582.5:c.8776del, NM_024582.4:c.8776del, NM_001291303.3:c.8782del, NM_001291303.2:c.8782del, NM_001291303.1:c.8782del, NM_001291285.3:c.8782del, NM_001291285.2:c.8782del, NM_001291285.1:c.8782del, XM_011532237.3:c.3553del, XM_011532237.2:c.3553del, XM_011532237.1:c.3553del, XM_047416151.1:c.8782del, XM_047416153.1:c.8782del, NP_078858.4:p.Glu2926fs, NP_001278232.1:p.Glu2928fs, NP_001278214.1:p.Glu2928fs, XP_011530539.1:p.Glu1185fs, XP_047272107.1:p.Glu2928fs, XP_047272109.1:p.Glu2928fs

Select item 148207491616.

rs1482074916 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:125491458 (GRCh38)
4:126412613 (GRCh37)
Canonical SPDI:: NC_000004.12:125491457:A:G
Gene:: FAT4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000071/1 (TOMMO)
HGVS:: NC_000004.12:g.125491458A>G, NC_000004.11:g.126412613A>G, NG_033865.1:g.180047A>G, NM_024582.6:c.14636A>G, NM_024582.5:c.14636A>G, NM_024582.4:c.14636A>G, NM_001291303.3:c.14642A>G, NM_001291303.2:c.14642A>G, NM_001291303.1:c.14642A>G, NM_001291285.3:c.14639A>G, NM_001291285.2:c.14639A>G, NM_001291285.1:c.14639A>G, XM_011532237.3:c.9413A>G, XM_011532237.2:c.9413A>G, XM_011532237.1:c.9413A>G, XM_047416151.1:c.14642A>G, XM_047416153.1:c.14639A>G, NP_078858.4:p.Asp4879Gly, NP_001278232.1:p.Asp4881Gly, NP_001278214.1:p.Asp4880Gly, XP_011530539.1:p.Asp3138Gly, XP_047272107.1:p.Asp4881Gly, XP_047272109.1:p.Asp4880Gly

Select item 148205498917.

rs1482054989 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:125491674 (GRCh38)
4:126412829 (GRCh37)
Canonical SPDI:: NC_000004.12:125491673:C:T
Gene:: FAT4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.125491674C>T, NC_000004.11:g.126412829C>T, NG_033865.1:g.180263C>T, NM_024582.6:c.14852C>T, NM_024582.5:c.14852C>T, NM_024582.4:c.14852C>T, NM_001291303.3:c.14858C>T, NM_001291303.2:c.14858C>T, NM_001291303.1:c.14858C>T, NM_001291285.3:c.14855C>T, NM_001291285.2:c.14855C>T, NM_001291285.1:c.14855C>T, XM_011532237.3:c.9629C>T, XM_011532237.2:c.9629C>T, XM_011532237.1:c.9629C>T, XM_047416151.1:c.14858C>T, XM_047416153.1:c.14855C>T, NP_078858.4:p.Ala4951Val, NP_001278232.1:p.Ala4953Val, NP_001278214.1:p.Ala4952Val, XP_011530539.1:p.Ala3210Val, XP_047272107.1:p.Ala4953Val, XP_047272109.1:p.Ala4952Val

Select item 148198165718.

rs1481981657 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:125481719 (GRCh38)
4:126402874 (GRCh37)
Canonical SPDI:: NC_000004.12:125481718:G:A
Gene:: FAT4 (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_000004.12:g.125481719G>A, NC_000004.11:g.126402874G>A, NG_033865.1:g.170308G>A, NM_024582.6:c.12797G>A, NM_024582.5:c.12797G>A, NM_024582.4:c.12797G>A, NM_001291303.3:c.12803G>A, NM_001291303.2:c.12803G>A, NM_001291303.1:c.12803G>A, NM_001291285.3:c.12803G>A, NM_001291285.2:c.12803G>A, NM_001291285.1:c.12803G>A, XM_011532237.3:c.7574G>A, XM_011532237.2:c.7574G>A, XM_011532237.1:c.7574G>A, XM_047416151.1:c.12803G>A, XM_047416153.1:c.12803G>A, NP_078858.4:p.Ser4266Asn, NP_001278232.1:p.Ser4268Asn, NP_001278214.1:p.Ser4268Asn, XP_011530539.1:p.Ser2525Asn, XP_047272107.1:p.Ser4268Asn, XP_047272109.1:p.Ser4268Asn

Select item 148125008919.

rs1481250089 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:125415572 (GRCh38)
4:126336727 (GRCh37)
Canonical SPDI:: NC_000004.12:125415571:G:T
Gene:: FAT4 (Varview)
Functional Consequence:: 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_000004.12:g.125415572G>T, NC_000004.11:g.126336727G>T, NG_033865.1:g.104161G>T, NM_024582.6:c.6609G>T, NM_024582.5:c.6609G>T, NM_024582.4:c.6609G>T, NM_001291303.3:c.6609G>T, NM_001291303.2:c.6609G>T, NM_001291303.1:c.6609G>T, NM_001291285.3:c.6609G>T, NM_001291285.2:c.6609G>T, NM_001291285.1:c.6609G>T, XM_011532237.3:c.1380G>T, XM_011532237.2:c.1380G>T, XM_011532237.1:c.1380G>T, XM_047416151.1:c.6609G>T, XM_047416153.1:c.6609G>T

Select item 148095803720.

rs1480958037 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:125451232 (GRCh38)
4:126372387 (GRCh37)
Canonical SPDI:: NC_000004.12:125451231:C:G
Gene:: FAT4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000031/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.125451232C>G, NC_000004.11:g.126372387C>G, NG_033865.1:g.139821C>G, NM_024582.6:c.10216C>G, NM_024582.5:c.10216C>G, NM_024582.4:c.10216C>G, NM_001291303.3:c.10222C>G, NM_001291303.2:c.10222C>G, NM_001291303.1:c.10222C>G, NM_001291285.3:c.10222C>G, NM_001291285.2:c.10222C>G, NM_001291285.1:c.10222C>G, XM_011532237.3:c.4993C>G, XM_011532237.2:c.4993C>G, XM_011532237.1:c.4993C>G, XM_047416151.1:c.10222C>G, XM_047416153.1:c.10222C>G, NP_078858.4:p.Leu3406Val, NP_001278232.1:p.Leu3408Val, NP_001278214.1:p.Leu3408Val, XP_011530539.1:p.Leu1665Val, XP_047272107.1:p.Leu3408Val, XP_047272109.1:p.Leu3408Val

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