This site uses cookies!

We use cookies for security, analytics and session persistence reasons. Please refer to our Cookie Policy for more information.

Select Cookie Preferences (Hover for info)

Details for POLG:c.2554C>T, p.Arg852Cys

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
89865011	89321780

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.2554C>T

PROTEIN CHANGE

p.Arg852Cys

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
4.773e-05	0.0	0.0	0.0	0.0	0.0	0.0001055	0.0	0.0

ESP
AA	EA
0.0	0.0002326

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.726164	Disease causing

DBSNP ID

1 combination linked to POLG:c.2554C>T, p.Arg852Cys

1 disease linked to POLG:c.2554C>T, p.Arg852Cys

Transposition of the great arteries

Found any issues with the data on this page? Report this entry.