chr19:43551746:C>T Detail (hg38) (XRCC1)

Information

Genome

Assembly Position
hg19 chr19:44,055,898-44,055,898 View the variant detail on this assembly version.
hg38 chr19:43,551,746-43,551,746

HGVS

Type Transcript Protein
RefSeq NM_006297.2:c.990-59G>A
Ensemble ENST00000262887.10:c.1083-59G>A
ENST00000543982.5:c.990-59G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.743
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 194360 OMIM
HGNC 12828 HGNC
Ensembl ENSG00000073050 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv62217118 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
0.005 breast carcinoma We evaluated associations between seven single-nucleotide polymorphisms in four ... BeFree 21622940 Detail
0.018 breast carcinoma We evaluated associations between seven single-nucleotide polymorphisms in four ... BeFree 21622940 Detail
0.098 Malignant neoplasm of breast We evaluated associations between seven single-nucleotide polymorphisms in four ... BeFree 21622940 Detail
0.002 breast carcinoma We evaluated associations between seven single-nucleotide polymorphisms in four ... BeFree 21622940 Detail
0.026 Malignant neoplasm of breast We evaluated associations between seven single-nucleotide polymorphisms in four ... BeFree 21622940 Detail
0.023 Malignant neoplasm of breast We evaluated associations between seven single-nucleotide polymorphisms in four ... BeFree 21622940 Detail
Annotation

Annotations

DescrptionSourceLinks
We evaluated associations between seven single-nucleotide polymorphisms in four DNA repair genes (ER... DisGeNET Detail
We evaluated associations between seven single-nucleotide polymorphisms in four DNA repair genes (ER... DisGeNET Detail
We evaluated associations between seven single-nucleotide polymorphisms in four DNA repair genes (ER... DisGeNET Detail
We evaluated associations between seven single-nucleotide polymorphisms in four DNA repair genes (ER... DisGeNET Detail
We evaluated associations between seven single-nucleotide polymorphisms in four DNA repair genes (ER... DisGeNET Detail
We evaluated associations between seven single-nucleotide polymorphisms in four DNA repair genes (ER... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs25486 dbSNP
Genome
hg38
Position
chr19:43,551,746-43,551,746
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs25486
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.7431
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
12454
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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