chr22:42017264:A>G Detail (hg19) (XRCC6)

Information

Genome

Assembly Position
hg19 chr22:42,017,264-42,017,264
hg38 chr22:41,621,260-41,621,260 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001288978.1:c.-138A>G
Ensemble ENST00000428575.6:c.-138A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.948
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 152690 OMIM
HGNC 4055 HGNC
Ensembl ENSG00000196419 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv66032046 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 breast carcinoma Sensitivity analyses were also performed.The rs2267437 polymorphism was associat... BeFree 25569644 Detail
0.015 Malignant neoplasm of breast Sensitivity analyses were also performed.The rs2267437 polymorphism was associat... BeFree 25569644 Detail
0.001 renal cell carcinoma Sensitivity analyses were also performed.The rs2267437 polymorphism was associat... BeFree 25569644 Detail
<0.001 liver carcinoma Sensitivity analyses were also performed.The rs2267437 polymorphism was associat... BeFree 25569644 Detail
Annotation

Annotations

DescrptionSourceLinks
Sensitivity analyses were also performed.The rs2267437 polymorphism was associated with a significan... DisGeNET Detail
Sensitivity analyses were also performed.The rs2267437 polymorphism was associated with a significan... DisGeNET Detail
Sensitivity analyses were also performed.The rs2267437 polymorphism was associated with a significan... DisGeNET Detail
Sensitivity analyses were also performed.The rs2267437 polymorphism was associated with a significan... 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
-
dbSNP
rs132770 dbSNP
Genome
hg19
Position
chr22:42,017,264-42,017,264
Variant Type
snv
Reference Allele
A
Alternative Allele
G
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))
rs132770
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.9484
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
15894
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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