chr16:13944802:T>C Detail (hg38) (ERCC4)

Information

Genome

Assembly Position
hg19 chr16:14,038,659-14,038,659 View the variant detail on this assembly version.
hg38 chr16:13,944,802-13,944,802

HGVS

Type Transcript Protein
RefSeq NM_005236.2:c.1984T>C NP_005227.1:p.Ser662Pro
Ensemble ENST00000311895.8:c.1984T>C ENST00000311895.8:p.Ser662Pro
ENST00000682617.1:c.2122T>C ENST00000682617.1:p.Ser708Pro
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
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 tgv394342699 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
Benign 2023-07-07 criteria provided, multiple submitters, no conflicts Xeroderma pigmentosum, group F germline Detail
Benign 2024-01-30 criteria provided, single submitter Cockayne syndrome,Xeroderma pigmentosum, group F,Fanconi anemia complementation group Q germline Detail
Benign 2024-01-30 criteria provided, single submitter Cockayne syndrome,Xeroderma pigmentosum, group F,Fanconi anemia complementation group Q germline Detail
Benign 2024-01-30 criteria provided, single submitter Cockayne syndrome,Xeroderma pigmentosum, group F,Fanconi anemia complementation group Q germline Detail
Benign 2019-03-24 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.026 Malignant neoplasm of breast Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys ... BeFree 20183911 Detail
0.032 Malignant neoplasm of breast Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys ... BeFree 20183911 Detail
0.004 breast carcinoma Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys ... BeFree 20183911 Detail
0.098 Malignant neoplasm of breast Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys ... BeFree 20183911 Detail
0.018 breast carcinoma Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys ... BeFree 20183911 Detail
0.005 breast carcinoma Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys ... BeFree 20183911 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_005236.3(ERCC4):c.1984T>C (p.Ser662Pro) AND not specified ClinVar Detail
NM_005236.3(ERCC4):c.1984T>C (p.Ser662Pro) AND Xeroderma pigmentosum, group F ClinVar Detail
NM_005236.3(ERCC4):c.1984T>C (p.Ser662Pro) AND multiple conditions ClinVar Detail
NM_005236.3(ERCC4):c.1984T>C (p.Ser662Pro) AND multiple conditions ClinVar Detail
NM_005236.3(ERCC4):c.1984T>C (p.Ser662Pro) AND multiple conditions ClinVar Detail
NM_005236.3(ERCC4):c.1984T>C (p.Ser662Pro) AND not provided ClinVar Detail
Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys and Arg229Gln), ERCC... DisGeNET Detail
Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys and Arg229Gln), ERCC... DisGeNET Detail
Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys and Arg229Gln), ERCC... DisGeNET Detail
Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys and Arg229Gln), ERCC... DisGeNET Detail
Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys and Arg229Gln), ERCC... DisGeNET Detail
Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys and Arg229Gln), ERCC... 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
rs2020955 dbSNP
Genome
hg38
Position
chr16:13,944,802-13,944,802
Variant Type
snv
Reference Allele
T
Alternative Allele
C
East Asian Chromosome Counts (ExAC)
8644
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)
121166
Allele Counts in All Race (ExAC)
2303
Heterozygous Counts in All Race (ExAC)
1901
Homozygous Counts in All Race (ExAC)
201
Allele Frequency in All Race (ExAC)
0.01900698215671063
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