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Details for VWF:c.5641G>A, p.Asp1881Asn

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
6121276	6012110

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.5641G>A

PROTEIN CHANGE

p.Asp1881Asn

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	4.183888	Polymorphism

DBSNP ID

1 combination linked to VWF:c.5641G>A, p.Asp1881Asn

1 disease linked to VWF:c.5641G>A, p.Asp1881Asn

Primary ovarian failure

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