Annotation Detail
Information
- Associated Genes
- VWF
- Associated Variants
-
VWF p.Arg854Gln (p.R854Q)
(
ENST00000261405.10 )
VWF p.Arg854Gln (p.R854Q) ( ENST00000261405.10 ) - Associated Disease
- von Willebrand disease type 2 von Willebrand disease type 3 von Willebrand disease type 1
- Source Database
- ClinVar
- Description
- NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) AND multiple conditions
- ClinVar Allele ID
- 15335
- ClinVar RefSeq Alternation Syntax
- NM_000552.5:c.2561G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-05-03
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000762901
- ClinVar Disease
- von Willebrand disease type 3
- ClinVar Disease
- von Willebrand disease type 1
- ClinVar Disease
- von Willebrand disease type 2
- Observed Origin Sample
- inherited
- Observed Origin Sample
- unknown
Drugs