chr19:45423658:C>A Detail (hg38) (ERCC1)

Information

Genome

Assembly Position
hg19 chr19:45,926,916-45,926,916 View the variant detail on this assembly version.
hg38 chr19:45,423,658-45,423,658

HGVS

Type Transcript Protein
RefSeq NM_001983.3:c.-8+123G>T
NM_001166049.1:c.-8+123G>T
Ensemble ENST00000300853.8:c.-8+123G>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.444
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
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 tgv62287857 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-11-11 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.003 Xeroderma pigmentosum, group F We investigated the association between polymorphisms in excision repair cross-c... BeFree 24861646 Detail
0.006 colorectal cancer We investigated the association between polymorphisms in excision repair cross-c... BeFree 24861646 Detail
<0.001 colorectal carcinoma We investigated the association between polymorphisms in excision repair cross-c... BeFree 24861646 Detail
0.444 Xeroderma pigmentosum, group F We investigated the association between polymorphisms in excision repair cross-c... BeFree 24861646 Detail
0.002 prostate carcinoma Men carrying the variant A allele at ERCC1 rs2298881 exhibited increased prostat... BeFree 22102698 Detail
0.067 Malignant neoplasm of lung MDR (multifactor dimensionality reduction) analysis demonstrated the best signif... BeFree 24140460 Detail
0.006 Malignant neoplasm of prostate Men carrying the variant A allele at ERCC1 rs2298881 exhibited increased prostat... BeFree 22102698 Detail
0.008 Carcinoma of lung MDR (multifactor dimensionality reduction) analysis demonstrated the best signif... BeFree 24140460 Detail
0.014 Carcinoma of lung MDR (multifactor dimensionality reduction) analysis demonstrated the best signif... BeFree 24140460 Detail
0.214 Malignant neoplasm of lung MDR (multifactor dimensionality reduction) analysis demonstrated the best signif... BeFree 24140460 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001983.4(ERCC1):c.-8+123G>T AND not provided ClinVar Detail
We investigated the association between polymorphisms in excision repair cross-complementation group... DisGeNET Detail
We investigated the association between polymorphisms in excision repair cross-complementation group... DisGeNET Detail
We investigated the association between polymorphisms in excision repair cross-complementation group... DisGeNET Detail
We investigated the association between polymorphisms in excision repair cross-complementation group... DisGeNET Detail
Men carrying the variant A allele at ERCC1 rs2298881 exhibited increased prostate cancer risk with h... DisGeNET Detail
MDR (multifactor dimensionality reduction) analysis demonstrated the best significant model of two-a... DisGeNET Detail
Men carrying the variant A allele at ERCC1 rs2298881 exhibited increased prostate cancer risk with h... DisGeNET Detail
MDR (multifactor dimensionality reduction) analysis demonstrated the best significant model of two-a... DisGeNET Detail
MDR (multifactor dimensionality reduction) analysis demonstrated the best significant model of two-a... DisGeNET Detail
MDR (multifactor dimensionality reduction) analysis demonstrated the best significant model of two-a... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2298881 dbSNP
Genome
hg38
Position
chr19:45,423,658-45,423,658
Variant Type
snv
Reference Allele
C
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))
rs2298881
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4437
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7434
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16754
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