Annotation Detail
Information
- Associated Genes
- VWF
- Associated Variants
-
VWF p.Cys1130Phe (p.C1130F)
(
ENST00000261405.10 )
VWF p.Cys1130Phe (p.C1130F) ( ENST00000261405.10 ) - Associated Disease
- von Willebrand disease type 2
- Source Database
- ClinVar
- Description
- NM_000552.5(VWF):c.3389G>T (p.Cys1130Phe) AND von Willebrand disease type 2
- ClinVar Allele ID
- 106138
- ClinVar RefSeq Alternation Syntax
- NM_000552.5:c.3389G>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2022-04-26
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002243723
- ClinVar Disease
- von Willebrand disease type 2
- Observed Origin Sample
- germline
Drugs