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Details for POLG:c.752C>T, p.Thr251Ile

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
89873415	89330184

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.752C>T

PROTEIN CHANGE

p.Thr251Ile

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
0.001548	0.0002463	0.0008964	0.001985	0.0	0.0003699	0.00272	0.002283	9.799e-05

ESP
AA	EA
0.0	0.003373

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.062196	Disease causing

DBSNP ID

2 combinations linked to POLG:c.752C>T, p.Thr251Ile

OLI1050; OLI1053

1 disease linked to POLG:c.752C>T, p.Thr251Ile

Primary ovarian failure

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