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Details for GDF9:c.307C>T, p.Pro103Ser

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
132199919	132864227

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.307C>T

PROTEIN CHANGE

p.Pro103Ser

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0006	0.0008	0.0	0.0	0.002	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.002768	0.000123	0.0006071	0.0	0.0	0.009563	0.003912	0.002933	9.799e-05

ESP
AA	EA
0.0006809	0.002907

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.558093	Polymorphism

DBSNP ID

1 combination linked to GDF9:c.307C>T, p.Pro103Ser

1 disease linked to GDF9:c.307C>T, p.Pro103Ser

Primary ovarian failure

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