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Details for DVL1:c.1687C>T, p.Arg563Cys

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
1271848	1336468

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed_and_verified

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1687C>T

PROTEIN CHANGE

p.Arg563Cys

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
0.0003822	8.433e-05	0.000295	0.000163	0.0	0.0	0.000686	0.0002193	0.0

ESP
AA	EA
0.0	0.0002511

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.379563	Polymorphism

DBSNP ID

1 combination linked to DVL1:c.1687C>T, p.Arg563Cys

1 disease linked to DVL1:c.1687C>T, p.Arg563Cys

Isolated anencephaly

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