chr2:216201914:G>A Detail (hg38) (XRCC5)

Information

Genome

Assembly Position
hg19 chr2:217,066,637-217,066,637 View the variant detail on this assembly version.
hg38 chr2:216,201,914-216,201,914

HGVS

Type Transcript Protein
RefSeq NM_021141.3:c.2110-2408G>A
Ensemble ENST00000392132.7:c.2110-2408G>A
ENST00000392133.7:c.2110-2408G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.074
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 194364 OMIM
HGNC 12833 HGNC
Ensembl ENSG00000079246 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv10475172 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
0.015 Malignant neoplasm of breast This meta-analysis suggests that the rs3835 G>A and rs828907 G>T in XRCC5 ... BeFree 23098447 Detail
0.003 breast carcinoma This meta-analysis suggests that the rs3835 G>A and rs828907 G>T in XRCC5 ... BeFree 23098447 Detail
<0.001 Non-small cell lung carcinoma Patients with NSCLC (n = 152) and a group of appropriate age-matched and sex-mat... BeFree 19408343 Detail
0.001 Non-small cell lung carcinoma Patients with NSCLC (n = 152) and a group of appropriate age-matched and sex-mat... BeFree 19408343 Detail
0.001 Non-small cell lung carcinoma The authors genotyped 5 potentially functional SNPs-x-ray repair complementing d... BeFree 21717429 Detail
<0.001 Non-small cell lung carcinoma The authors genotyped 5 potentially functional SNPs-x-ray repair complementing d... BeFree 21717429 Detail
<0.001 Non-small cell lung carcinoma The authors genotyped 5 potentially functional SNPs-x-ray repair complementing d... BeFree 21717429 Detail
Annotation

Annotations

DescrptionSourceLinks
This meta-analysis suggests that the rs3835 G&gt;A and rs828907 G&gt;T in XRCC5 gene, rs6002421 (A&g... DisGeNET Detail
This meta-analysis suggests that the rs3835 G&gt;A and rs828907 G&gt;T in XRCC5 gene, rs6002421 (A&g... DisGeNET Detail
Patients with NSCLC (n = 152) and a group of appropriate age-matched and sex-matched controls (n = 1... DisGeNET Detail
Patients with NSCLC (n = 152) and a group of appropriate age-matched and sex-matched controls (n = 1... DisGeNET Detail
The authors genotyped 5 potentially functional SNPs-x-ray repair complementing defective repair in C... DisGeNET Detail
The authors genotyped 5 potentially functional SNPs-x-ray repair complementing defective repair in C... DisGeNET Detail
The authors genotyped 5 potentially functional SNPs-x-ray repair complementing defective repair in C... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs3835 dbSNP
Genome
hg38
Position
chr2:216,201,914-216,201,914
Variant Type
snv
Reference Allele
G
Alternative Allele
A
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs3835
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0736
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1233
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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