Annotation Detail

Information
Associated Genes
WRN
Associated Variants
WRN p.Cys1367Arg (p.C1367R) ( ENST00000298139.7 )
WRN p.Cys1367Arg (p.C1367R) ( ENST00000298139.7 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_000553.6(WRN):c.4099T>C (p.Cys1367Arg) AND not provided
ClinVar Allele ID
136208
ClinVar RefSeq Alternation Syntax
NM_000553.6:c.4099T>C
Clinical Significance Description
Benign
Clinical Significance Last Update
2018-05-17
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000835594
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs