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Details for POLG:c.803G>C, p.Gly268Ala

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
89873364	89330133

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

c.803G>C

PROTEIN CHANGE

p.Gly268Ala

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0028	0.0	0.0115	0.0	0.006	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.003442	0.0007384	0.004973	0.005853	0.0	0.004158	0.00419	0.007334	0.0003593

ESP
AA	EA
0.0006818	0.005466

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.775605	Polymorphism

DBSNP ID

1 combination linked to POLG:c.803G>C, p.Gly268Ala

1 disease linked to POLG:c.803G>C, p.Gly268Ala

Primary ovarian failure

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