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Details for GDF9:c.1283G>C, p.Ser428Thr

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
132197363	132861671

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.1283G>C

PROTEIN CHANGE

p.Ser428Thr

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0008	0.0	0.0	0.004	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0002624	0.0	0.0	0.0	0.003588	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.193825	Polymorphism

DBSNP ID

1 combination linked to GDF9:c.1283G>C, p.Ser428Thr

1 disease linked to GDF9:c.1283G>C, p.Ser428Thr

Primary ovarian failure

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