Annotation Detail
Information
- Associated Genes
- VWF
- Associated Variants
-
VWF p.Thr791Met (p.T791M)
(
ENST00000261405.10 )
VWF p.Thr791Met (p.T791M) ( ENST00000261405.10 ) - Associated Disease
- von Willebrand disease type 2N
- Source Database
- ClinVar
- Description
- NM_000552.5(VWF):c.2372C>T (p.Thr791Met) AND von Willebrand disease type 2N
- ClinVar Allele ID
- 15333
- ClinVar RefSeq Alternation Syntax
- NM_000552.5:c.2372C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2010-05-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000000318
- ClinVar Disease
- von Willebrand disease type 2N
- Observed Origin Sample
- germline
- Pubmed
- 1906179
- Pubmed
- 20409624
- Pubmed
- 2018834
- Pubmed
- 8500791
- Pubmed
- 2104761
Drugs