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 provided
Source Database
ClinVar
Description
NM_000553.6(WRN):c.340G>A (p.Val114Ile) AND not provided
ClinVar Allele ID
136206
ClinVar RefSeq Alternation Syntax
NM_000553.6:c.340G>A
Clinical Significance Description
Benign
Clinical Significance Last Update
2018-08-16
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001668268
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs