chr19:45407414:A>G Detail (hg38) (ERCC1, POLR1G)

Information

Genome

Assembly Position
hg19 chr19:45,910,672-45,910,672 View the variant detail on this assembly version.
hg38 chr19:45,407,414-45,407,414

HGVS

Type Transcript Protein
RefSeq NM_001983.3:c.*2261T>C
Ensemble ENST00000300853.8:c.*2261T>C
ENST00000423698.6:c.*2261T>C
Type Transcript Protein
RefSeq NM_012099.1:c.164+179A>G
NM_001297590.1:c.170+179A>G
Ensemble ENST00000309424.8:c.164+179A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.235
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 126380 OMIM
HGNC 3433 HGNC
Ensembl ENSG00000012061 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv62286740 TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM 107325 OMIM
HGNC 24219 HGNC
Ensembl ENSG00000117877 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv62286740 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
0.002 Carcinoma of lung The haplotype ERCC2 rs3916874(G) and rs238415(C) [OR (95% CI)=1.26 (1.02-1.57), ... BeFree 24140460 Detail
0.007 Malignant neoplasm of lung The haplotype ERCC2 rs3916874(G) and rs238415(C) [OR (95% CI)=1.26 (1.02-1.57), ... BeFree 24140460 Detail
Annotation

Annotations

DescrptionSourceLinks
The haplotype ERCC2 rs3916874(G) and rs238415(C) [OR (95% CI)=1.26 (1.02-1.57), P=0.03] in block 1 a... DisGeNET Detail
The haplotype ERCC2 rs3916874(G) and rs238415(C) [OR (95% CI)=1.26 (1.02-1.57), P=0.03] in block 1 a... 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
rs1046282 dbSNP
Genome
hg38
Position
chr19:45,407,414-45,407,414
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))
rs1046282
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2348
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3935
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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