This site uses cookies!

We use cookies for security, analytics and session persistence reasons. Please refer to our Cookie Policy for more information.

Select Cookie Preferences (Hover for info)

Details for FAT4:c.10384A>G, p.Ile3462Val

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
126372555	125451400

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.10384A>G

PROTEIN CHANGE

p.Ile3462Val

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.001	0.0	0.0014	0.0	0.004	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.002005	0.0004317	0.00107	0.0	0.0	0.0008315	0.003646	0.001144	0.0006859

ESP
AA	EA
0.0006809	0.004884

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.400856	Polymorphism

DBSNP ID

1 combination linked to FAT4:c.10384A>G, p.Ile3462Val

1 disease linked to FAT4:c.10384A>G, p.Ile3462Val

Isolated anencephaly

Found any issues with the data on this page? Report this entry.