chr9:97687210:T>G Detail (hg38) (XPA)

Information

Genome

Assembly Position
hg19 chr9:100,449,492-100,449,492 View the variant detail on this assembly version.
hg38 chr9:97,687,210-97,687,210

HGVS

Type Transcript Protein
RefSeq NM_000380.3:c.441A>C NP_000371.1:p.Glu147Asp
Ensemble ENST00000375128.5:c.441A>C ENST00000375128.5:p.Glu147Asp
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 611153 OMIM
HGNC 12814 HGNC
Ensembl ENSG00000136936 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
0.007 Malignant neoplasm of stomach Polymorphic variants of base excision repair (APE1-D148E, XRCC1-R194W, XRCC1-R39... BeFree 20817763 Detail
0.002 stomach carcinoma Polymorphic variants of base excision repair (APE1-D148E, XRCC1-R194W, XRCC1-R39... BeFree 20817763 Detail
0.006 stomach carcinoma Polymorphic variants of base excision repair (APE1-D148E, XRCC1-R194W, XRCC1-R39... BeFree 20817763 Detail
0.009 stomach carcinoma Polymorphic variants of base excision repair (APE1-D148E, XRCC1-R194W, XRCC1-R39... BeFree 20817763 Detail
<0.001 Paroxysmal atrial tachycardia We investigated the association of 10 base-excision and nucleotide-excision repa... BeFree 17531525 Detail
0.013 Malignant neoplasm of stomach Polymorphic variants of base excision repair (APE1-D148E, XRCC1-R194W, XRCC1-R39... BeFree 20817763 Detail
0.003 stomach carcinoma Polymorphic variants of base excision repair (APE1-D148E, XRCC1-R194W, XRCC1-R39... BeFree 20817763 Detail
0.010 Malignant neoplasm of stomach Polymorphic variants of base excision repair (APE1-D148E, XRCC1-R194W, XRCC1-R39... BeFree 20817763 Detail
0.005 stomach carcinoma Polymorphic variants of base excision repair (APE1-D148E, XRCC1-R194W, XRCC1-R39... BeFree 20817763 Detail
0.012 Malignant neoplasm of stomach Polymorphic variants of base excision repair (APE1-D148E, XRCC1-R194W, XRCC1-R39... BeFree 20817763 Detail
0.003 Carcinoma of lung We investigated the association of 10 base-excision and nucleotide-excision repa... BeFree 17531525 Detail
0.036 Malignant neoplasm of lung We investigated the association of 10 base-excision and nucleotide-excision repa... BeFree 17531525 Detail
0.007 Malignant neoplasm of stomach Polymorphic variants of base excision repair (APE1-D148E, XRCC1-R194W, XRCC1-R39... BeFree 20817763 Detail
0.084 Carcinoma of lung We investigated the association of 10 base-excision and nucleotide-excision repa... BeFree 17531525 Detail
0.044 Malignant neoplasm of lung We investigated the association of 10 base-excision and nucleotide-excision repa... BeFree 17531525 Detail
Annotation

Annotations

DescrptionSourceLinks
Polymorphic variants of base excision repair (APE1-D148E, XRCC1-R194W, XRCC1-R399Q and OGG1-S326C), ... DisGeNET Detail
Polymorphic variants of base excision repair (APE1-D148E, XRCC1-R194W, XRCC1-R399Q and OGG1-S326C), ... DisGeNET Detail
Polymorphic variants of base excision repair (APE1-D148E, XRCC1-R194W, XRCC1-R399Q and OGG1-S326C), ... DisGeNET Detail
Polymorphic variants of base excision repair (APE1-D148E, XRCC1-R194W, XRCC1-R399Q and OGG1-S326C), ... DisGeNET Detail
We investigated the association of 10 base-excision and nucleotide-excision repair gene polymorphism... DisGeNET Detail
Polymorphic variants of base excision repair (APE1-D148E, XRCC1-R194W, XRCC1-R399Q and OGG1-S326C), ... DisGeNET Detail
Polymorphic variants of base excision repair (APE1-D148E, XRCC1-R194W, XRCC1-R399Q and OGG1-S326C), ... DisGeNET Detail
Polymorphic variants of base excision repair (APE1-D148E, XRCC1-R194W, XRCC1-R399Q and OGG1-S326C), ... DisGeNET Detail
Polymorphic variants of base excision repair (APE1-D148E, XRCC1-R194W, XRCC1-R399Q and OGG1-S326C), ... DisGeNET Detail
Polymorphic variants of base excision repair (APE1-D148E, XRCC1-R194W, XRCC1-R399Q and OGG1-S326C), ... DisGeNET Detail
We investigated the association of 10 base-excision and nucleotide-excision repair gene polymorphism... DisGeNET Detail
We investigated the association of 10 base-excision and nucleotide-excision repair gene polymorphism... DisGeNET Detail
Polymorphic variants of base excision repair (APE1-D148E, XRCC1-R194W, XRCC1-R399Q and OGG1-S326C), ... DisGeNET Detail
We investigated the association of 10 base-excision and nucleotide-excision repair gene polymorphism... DisGeNET Detail
We investigated the association of 10 base-excision and nucleotide-excision repair gene polymorphism... 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
hg38
Position
chr9:97,687,210-97,687,210
Variant Type
snv
Reference Allele
T
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8600
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)
120382
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.6613779468691332E-5
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