Annotation Detail
Information
- Associated Genes
- WRN
- Associated Variants
-
WRN p.Pro870Leu (p.P870L)
(
ENST00000298139.7 )
WRN p.Pro870Leu (p.P870L) ( ENST00000298139.7 ) - Associated Disease
- Werner syndrome
- Source Database
- ClinVar
- Description
- NM_000553.6(WRN):c.2609C>T (p.Pro870Leu) AND Werner syndrome
- ClinVar Allele ID
- 2095234
- ClinVar RefSeq Alternation Syntax
- NM_000553.6:c.2609C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-01-31
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002912927
- ClinVar Disease
- Werner syndrome
- Observed Origin Sample
- germline
Drugs