Annotation Detail

Information
Associated Genes
ERCC2
Associated Variants
ERCC2 p.Arg722Trp (p.R722W) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 )
ERCC2 p.Arg722Trp (p.R722W) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 )
Associated Disease
Hypotrichosis simplex
Source Database
ClinVar
Description
NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp) AND Hypotrichosis simplex
ClinVar Allele ID
31831
ClinVar RefSeq Alternation Syntax
NM_000400.4:c.2164C>T
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2021-03-05
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001449816
ClinVar Disease
Hypotrichosis simplex
Observed Origin Sample
germline
Drugs