Annotation Detail
Information
- Associated Genes
- VWF
- Associated Variants
-
VWF p.Arg2535Ter (p.R2535*)
(
ENST00000261405.10 )
VWF p.Arg2535Ter (p.R2535*) ( ENST00000261405.10 ) - Associated Disease
- von Willebrand disease type 3
- Source Database
- ClinVar
- Description
- NM_000552.5(VWF):c.7603C>T (p.Arg2535Ter) AND von Willebrand disease type 3
- ClinVar Allele ID
- 15338
- ClinVar RefSeq Alternation Syntax
- NM_000552.5:c.7603C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2020-11-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000000326
- ClinVar Disease
- von Willebrand disease type 3
- Observed Origin Sample
- germline
- Pubmed
- 1415226
Drugs