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Details for POLG:c.1760C>T, p.Pro587Leu

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
89868870	89325639

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.1760C>T

PROTEIN CHANGE

p.Pro587Leu

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0008	0.0	0.0014	0.0	0.003	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001545	0.0002463	0.0007518	0.001985	0.0	0.0003443	0.002698	0.002285	0.000294

ESP
AA	EA
0.0	0.003373

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.340308	Disease causing

DBSNP ID

2 combinations linked to POLG:c.1760C>T, p.Pro587Leu

OLI1050; OLI1053

1 disease linked to POLG:c.1760C>T, p.Pro587Leu

Primary ovarian failure

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