Annotation Detail
Information
- Associated Genes
- VWF
- Associated Variants
-
VWF p.Arg1853Ter (p.R1853*)
(
ENST00000261405.10 )
VWF p.Arg1853Ter (p.R1853*) ( ENST00000261405.10 ) - Associated Disease
- von Willebrand disease type 1
- Source Database
- ClinVar
- Description
- NM_000552.5(VWF):c.5557C>T (p.Arg1853Ter) AND von Willebrand disease type 1
- ClinVar Allele ID
- 15337
- ClinVar RefSeq Alternation Syntax
- NM_000552.5:c.5557C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1992-10-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000000325
- ClinVar Disease
- von Willebrand disease type 1
- Observed Origin Sample
- germline
- Pubmed
- 1415226
Drugs