Annotation Detail
Information
- Associated Genes
- VWF
- Associated Variants
-
VWF p.Arg854Gln (p.R854Q)
(
ENST00000261405.10 )
VWF p.Arg854Gln (p.R854Q) ( ENST00000261405.10 ) - Associated Disease
- Hereditary von Willebrand disease
- Source Database
- ClinVar
- Description
- NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) AND Hereditary von Willebrand disease
- ClinVar Allele ID
- 15335
- ClinVar RefSeq Alternation Syntax
- NM_000552.5:c.2561G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2024-03-19
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000169683
- ClinVar Disease
- Hereditary von Willebrand disease
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs