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Details for FAT1:p.Val3629Leu

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
187524795	186603641

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Val3629Leu

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.107267	Polymorphism

DBSNP ID

1 combination linked to FAT1:p.Val3629Leu

1 disease linked to FAT1:p.Val3629Leu

Holoprosencephaly

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