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Details for DVL3:c.443G>A, p.Arg148Gln

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
183882369	184164581

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.443G>A

PROTEIN CHANGE

p.Arg148Gln

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
1.941e-05	0.000128	3.51e-05	0.0	0.0	5.337e-05	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.224904	Polymorphism

DBSNP ID

1 combination linked to DVL3:c.443G>A, p.Arg148Gln

1 disease linked to DVL3:c.443G>A, p.Arg148Gln

Isolated anencephaly

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