Annotation Detail
Information
- Associated Genes
- VWF
- Associated Variants
-
VWF p.Arg34Ter (p.R34*)
(
ENST00000261405.10 )
VWF p.Arg34Ter (p.R34*) ( ENST00000261405.10 ) - Associated Disease
- von Willebrand disease type 2
- Source Database
- ClinVar
- Description
- NM_000552.5(VWF):c.100C>T (p.Arg34Ter) AND von Willebrand disease type 2
- ClinVar Allele ID
- 106048
- ClinVar RefSeq Alternation Syntax
- NM_000552.5:c.100C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-01-10
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003447491
- ClinVar Disease
- von Willebrand disease type 2
- Observed Origin Sample
- germline
Drugs