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Details for FIGLA:c.364delG, p.Glu122LysfsTer45

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
71014800	70787668

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

TC

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.364delG

PROTEIN CHANGE

p.Glu122LysfsTer45

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
5.222e-06	0.0	0.0	0.0	0.0	0.0	1.231e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	4.408177	Disease causing

DBSNP ID

1 combination linked to FIGLA:c.364delG, p.Glu122LysfsTer45

1 disease linked to FIGLA:c.364delG, p.Glu122LysfsTer45

Primary ovarian failure

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