chr16:14042077:A>G Detail (hg19) (ERCC4)

Information

Genome

Assembly Position
hg19 chr16:14,042,077-14,042,077
hg38 chr16:13,948,220-13,948,220 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_005236.2:c.2624A>G NP_005227.1:p.Glu875Gly
Ensemble ENST00000311895.8:c.2624A>G ENST00000311895.8:p.Glu875Gly
ENST00000682617.1:c.2762A>G ENST00000682617.1:p.Glu921Gly
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Benign Likely benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 133520 OMIM
HGNC 3436 HGNC
Ensembl ENSG00000175595 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign criteria provided, single submitter not specified germline Detail
Likely benign 2015-12-11 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Benign Likely benign 2019-04-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Benign 2024-02-01 criteria provided, single submitter Fanconi anemia complementation group Q,Cockayne syndrome,Xeroderma pigmentosum, group F germline Detail
Benign 2024-02-01 criteria provided, single submitter Fanconi anemia complementation group Q,Cockayne syndrome,Xeroderma pigmentosum, group F germline Detail
Benign 2024-02-01 criteria provided, single submitter Fanconi anemia complementation group Q,Cockayne syndrome,Xeroderma pigmentosum, group F germline Detail
Benign 2023-07-07 criteria provided, multiple submitters, no conflicts Xeroderma pigmentosum, group F germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.004 breast carcinoma In a nested case-control study of breast cancer in US radiologic technologists e... BeFree 18767034 Detail
<0.001 breast carcinoma In a nested case-control study of breast cancer in US radiologic technologists e... BeFree 18767034 Detail
0.032 Malignant neoplasm of breast In a nested case-control study of breast cancer in US radiologic technologists e... BeFree 18767034 Detail
0.010 Malignant neoplasm of breast In a nested case-control study of breast cancer in US radiologic technologists e... BeFree 18767034 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_005236.3(ERCC4):c.2624A>G (p.Glu875Gly) AND not specified ClinVar Detail
NM_005236.3(ERCC4):c.2624A>G (p.Glu875Gly) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_005236.3(ERCC4):c.2624A>G (p.Glu875Gly) AND not provided ClinVar Detail
NM_005236.3(ERCC4):c.2624A>G (p.Glu875Gly) AND multiple conditions ClinVar Detail
NM_005236.3(ERCC4):c.2624A>G (p.Glu875Gly) AND multiple conditions ClinVar Detail
NM_005236.3(ERCC4):c.2624A>G (p.Glu875Gly) AND multiple conditions ClinVar Detail
NM_005236.3(ERCC4):c.2624A>G (p.Glu875Gly) AND Xeroderma pigmentosum, group F ClinVar Detail
In a nested case-control study of breast cancer in US radiologic technologists exposed to low levels... DisGeNET Detail
In a nested case-control study of breast cancer in US radiologic technologists exposed to low levels... DisGeNET Detail
In a nested case-control study of breast cancer in US radiologic technologists exposed to low levels... DisGeNET Detail
In a nested case-control study of breast cancer in US radiologic technologists exposed to low levels... 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
rs1800124 dbSNP
Genome
hg19
Position
chr16:14,042,077-14,042,077
Variant Type
snv
Reference Allele
A
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8646
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121340
Allele Counts in All Race (ExAC)
1591
Heterozygous Counts in All Race (ExAC)
1557
Homozygous Counts in All Race (ExAC)
17
Allele Frequency in All Race (ExAC)
0.013111916927641338
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