Annotation Detail
Information
- Associated Genes
- WRN
- Associated Variants
-
WRN p.Val114Ile (p.V114I)
(
ENST00000298139.7 )
WRN p.Val114Ile (p.V114I) ( ENST00000298139.7 ) - Associated Disease
- Wiskott-Aldrich syndrome
- Source Database
- ClinVar
- Description
- NM_000553.6(WRN):c.340G>A (p.Val114Ile) AND Wiskott-Aldrich syndrome
- ClinVar Allele ID
- 136206
- ClinVar RefSeq Alternation Syntax
- NM_000553.6:c.340G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2023-07-07
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003315693
- ClinVar Disease
- Wiskott-Aldrich syndrome
- Observed Origin Sample
- germline
Drugs