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Details for FOXL2:c.1045C>G, p.Arg349Gly

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
138664520	138945678

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.1045C>G

PROTEIN CHANGE

p.Arg349Gly

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0008	0.0	0.0	0.004	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0003384	0.0	0.0	0.0004177	0.002844	0.0003749	5.824e-05	0.0001749	0.0003717

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.072298	Polymorphism

DBSNP ID

5 combinations linked to FOXL2:c.1045C>G, p.Arg349Gly

OLI1725; OLI1726; OLI1727; OLI1728; OLI1729

1 disease linked to FOXL2:c.1045C>G, p.Arg349Gly

Primary ovarian failure

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