Annotation Detail

Information
Associated Genes
XRCC1
Associated Variants
XRCC1 p.Arg280His (p.R280H) ( ENST00000262887.10, ENST00000543982.5 )
XRCC1 p.Arg280His (p.R280H) ( ENST00000262887.10, ENST00000543982.5 )
Associated Disease
laryngeal squamous cell carcinoma
Source Database
ClinVar
Description
NM_006297.3(XRCC1):c.839G>A (p.Arg280His) AND Laryngeal squamous cell carcinoma
ClinVar Allele ID
2747875
ClinVar RefSeq Alternation Syntax
NM_006297.3:c.839G>A
Clinical Significance Description
association
Clinical Significance Last Update
2022-06-16
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV003329491
ClinVar Disease
Laryngeal squamous cell carcinoma
Observed Origin Sample
germline
Drugs