Annotation Detail
Information
- Associated Genes
- VWF
- Associated Variants
-
VWF p.Pro812ArgfsTer31 (p.P812Rfs*31)
(
ENST00000261405.10 )
VWF p.Pro812ArgfsTer31 (p.P812Rfs*31) ( ENST00000261405.10 ) - Associated Disease
- von Willebrand disease type 3
- Source Database
- ClinVar
- Description
- NM_000552.5(VWF):c.2435del (p.Pro812fs) AND von Willebrand disease type 3
- ClinVar Allele ID
- 15342
- ClinVar RefSeq Alternation Syntax
- NM_000552.5:c.2435del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-04-12
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000000330
- ClinVar Disease
- von Willebrand disease type 3
- Observed Origin Sample
- germline
- Pubmed
- 1302613
- Pubmed
- 1301136
- Pubmed
- 8165603
- Pubmed
- 8367445
Drugs