chr3:9796508:G>A Detail (hg19) (OGG1)

Information

Genome

Assembly Position
hg19 chr3:9,796,508-9,796,508
hg38 chr3:9,754,824-9,754,824 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_002542.5:c.686G>A NP_002533.1:p.Arg229Gln
NM_016820.3:c.686G>A NP_058213.1:p.Arg229Gln
NM_016828.2:c.686G>A NP_058437.1:p.Arg229Gln
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 601982 OMIM
HGNC 8125 HGNC
Ensembl ENSG00000114026 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.003 leukemia A novel R229Q OGG1 polymorphism results in a thermolabile enzyme that sensitizes... BeFree 17651912 Detail
0.026 Malignant neoplasm of breast Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys ... BeFree 20183911 Detail
0.032 Malignant neoplasm of breast Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys ... BeFree 20183911 Detail
0.004 breast carcinoma Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys ... BeFree 20183911 Detail
0.098 Malignant neoplasm of breast Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys ... BeFree 20183911 Detail
0.018 breast carcinoma Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys ... BeFree 20183911 Detail
0.005 breast carcinoma Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys ... BeFree 20183911 Detail
Annotation

Annotations

DescrptionSourceLinks
A novel R229Q OGG1 polymorphism results in a thermolabile enzyme that sensitizes KG-1 leukemia cells... DisGeNET Detail
Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys and Arg229Gln), ERCC... DisGeNET Detail
Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys and Arg229Gln), ERCC... DisGeNET Detail
Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys and Arg229Gln), ERCC... DisGeNET Detail
Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys and Arg229Gln), ERCC... DisGeNET Detail
Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys and Arg229Gln), ERCC... DisGeNET Detail
Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys and Arg229Gln), ERCC... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
Genome
hg19
Position
chr3:9,796,508-9,796,508
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
6604
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
88676
Allele Counts in All Race (ExAC)
949
Heterozygous Counts in All Race (ExAC)
881
Homozygous Counts in All Race (ExAC)
34
Allele Frequency in All Race (ExAC)
0.010701881005006991
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