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Details for FIGLA:c.122C>T, p.Ala41Val

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
71017649	70790517

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.122C>T

PROTEIN CHANGE

p.Ala41Val

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
2.96e-05	0.0	0.0	0.0	0.0	0.0	7.911e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.954518	Polymorphism

DBSNP ID

1 combination linked to FIGLA:c.122C>T, p.Ala41Val

1 disease linked to FIGLA:c.122C>T, p.Ala41Val

Primary ovarian failure

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