Annotation Detail
Information
- Associated Genes
- VWF
- Associated Variants
-
VWF p.Pro2063Ser (p.P2063S)
(
ENST00000261405.10 )
VWF p.Pro2063Ser (p.P2063S) ( ENST00000261405.10 ) - Associated Disease
- von Willebrand disease type 2
- Source Database
- ClinVar
- Description
- NM_000552.5(VWF):c.6187C>T (p.Pro2063Ser) AND von Willebrand disease type 2
- ClinVar Allele ID
- 106313
- ClinVar RefSeq Alternation Syntax
- NM_000552.5:c.6187C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-12-05
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002243749
- ClinVar Disease
- von Willebrand disease type 2
- Observed Origin Sample
- germline
Drugs