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Details for FAT1:p.Val3459Met

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
187525704	186604550

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Val3459Met

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	None	None	None	None	None

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.000255	0.0	0.0002699	0.0001027	0.0	0.0002799	0.0003434	0.0006754	0.0001379

ESP
AA	EA
0.0	0.0008458

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.183424	Polymorphism

DBSNP ID

1 combination linked to FAT1:p.Val3459Met

1 disease linked to FAT1:p.Val3459Met

Holoprosencephaly

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