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Details for OGG1:c.137G>A, p.Arg46Gln

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
9792107	9750423

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.137G>A

PROTEIN CHANGE

p.Arg46Gln

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0006	0.0	0.0014	0.0	0.002	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.002214	0.0006772	0.001881	0.000794	0.0	0.0005607	0.003826	0.002285	0.0004247

ESP
AA	EA
0.0004539	0.003023

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	6.23582	Disease causing

DBSNP ID

1 combination linked to OGG1:c.137G>A, p.Arg46Gln

1 disease linked to OGG1:c.137G>A, p.Arg46Gln

Colorectal cancer

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