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Details for WNT4:c.739C>T, p.Arg247Cys

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
22446860	22120367

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.739C>T

PROTEIN CHANGE

p.Arg247Cys

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
3.183e-05	0.0	0.0	0.0	0.0	0.0	7.04e-05	0.0	0.0

ESP
AA	EA
0.0	0.0002326

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.906627	Polymorphism

DBSNP ID

1 combination linked to WNT4:c.739C>T, p.Arg247Cys

1 disease linked to WNT4:c.739C>T, p.Arg247Cys

Mayer-Rokitansky-Küster-Hauser syndrome

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