Annotation Detail

Information
Associated Genes
WRN
Associated Variants
WRN p.Val114Ile (p.V114I) ( ENST00000298139.7 )
WRN p.Val114Ile (p.V114I) ( ENST00000298139.7 )
Associated Disease
not specified
Source Database
ClinVar
Description
NM_000553.6(WRN):c.340G>A (p.Val114Ile) AND not specified
ClinVar Allele ID
136206
ClinVar RefSeq Alternation Syntax
NM_000553.6:c.340G>A
Clinical Significance Description
Benign/Likely benign
Clinical Significance Last Update
2021-12-10
Clinical Significance Review Status
criteria provided, multiple submitters, no conflicts
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000118878
ClinVar Disease
not specified
Observed Origin Sample
germline
Drugs