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Details for ZNRF3:c.1507G>A, p.Gly503Ser

CHROMOSOME

22

GENOMIC COORDINATES

hg19	hg38
29445676	29049688

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1507G>A

PROTEIN CHANGE

p.Gly503Ser

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0008	0.0014	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0001448	0.0	0.0001468	0.000103	0.0001134	0.0	0.0001897	0.0006988	6.63e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.949583	Polymorphism

DBSNP ID

2 combinations linked to ZNRF3:c.1507G>A, p.Gly503Ser

OLI1526; OLI1531

1 disease linked to ZNRF3:c.1507G>A, p.Gly503Ser

46,XY disorder of sex development

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