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 POLQ:c.6743A>G, p.Asn2248Ser

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
121187254	121468407

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.6743A>G

PROTEIN CHANGE

p.Asn2248Ser

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.0	0.0	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0001354	0.0	0.0	0.0	0.0	0.0	0.0001232	0.0001632	0.0006221

ESP
AA	EA
0.000227	0.0

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.715521	Polymorphism

DBSNP ID

1 combination linked to POLQ:c.6743A>G, p.Asn2248Ser

1 disease linked to POLQ:c.6743A>G, p.Asn2248Ser

Familial adenomatous polyposis

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