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Details for GDF9:c.1121C>T, p.Pro374Leu

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
132197525	132861833

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.1121C>T

PROTEIN CHANGE

p.Pro374Leu

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
2.784e-05	0.0	0.0	0.0	0.0	4.621e-05	5.275e-05	0.0	0.0

ESP
AA	EA
0.0	0.0002326

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.10537	Disease causing

DBSNP ID

1 combination linked to GDF9:c.1121C>T, p.Pro374Leu

1 disease linked to GDF9:c.1121C>T, p.Pro374Leu

Primary ovarian failure

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