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Details for ZNRF3:c.1861G>T, p.Ala621Ser

CHROMOSOME

22

GENOMIC COORDINATES

hg19	hg38
29446030	29050042

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1861G>T

PROTEIN CHANGE

p.Ala621Ser

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
8.533e-06	0.0	0.0	0.0	0.0	0.0	1.957e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	-0.216551	Polymorphism

DBSNP ID

1 combination linked to ZNRF3:c.1861G>T, p.Ala621Ser

1 disease linked to ZNRF3:c.1861G>T, p.Ala621Ser

46,XY disorder of sex development

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