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Details for FAT4:c.5792A>G, p.Tyr1931Cys

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
126329821	125408666

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.5792A>G

PROTEIN CHANGE

p.Tyr1931Cys

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0	0.0014	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0004566	0.0	0.0002608	0.0	0.0	0.0	0.0009173	0.0003285	0.0

ESP
AA	EA
0.000227	0.001047

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.925547	Disease causing

DBSNP ID

1 combination linked to FAT4:c.5792A>G, p.Tyr1931Cys

1 disease linked to FAT4:c.5792A>G, p.Tyr1931Cys

Isolated anencephaly

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