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Details for NR5A1:c.1063G>A, p.Val355Met

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
127253435	124491156

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.1063G>A

PROTEIN CHANGE

p.Val355Met

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.001	0.0	0.0	0.0	0.002	0.0031

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.000131	6.958e-05	2.968e-05	0.0	0.0	0.0	0.0001799	0.0003447	0.0002707

ESP
AA	EA
0.0	0.0002327

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.692173	Disease causing

DBSNP ID

1 combination linked to NR5A1:c.1063G>A, p.Val355Met

1 disease linked to NR5A1:c.1063G>A, p.Val355Met

Primary ovarian failure

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