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Details for GDF9:c.1360C>T, p.Arg454Cys

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
132197286	132861594

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1360C>T

PROTEIN CHANGE

p.Arg454Cys

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0028	0.0008	0.0101	0.0	0.004	0.002

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.002935	0.0008612	0.002717	0.0007937	0.0	0.003049	0.004096	0.00342	0.002254

ESP
AA	EA
0.0009079	0.002674

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.118887	Polymorphism

DBSNP ID

1 combination linked to GDF9:c.1360C>T, p.Arg454Cys

1 disease linked to GDF9:c.1360C>T, p.Arg454Cys

Primary ovarian failure

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