Annotation Detail
Information
- Associated Genes
- VWF
- Associated Variants
-
VWF p.Cys1060Arg (p.C1060R)
(
ENST00000261405.10 )
VWF p.Cys1060Arg (p.C1060R) ( ENST00000261405.10 ) - Associated Disease
- von Willebrand disease type 2N
- Source Database
- ClinVar
- Description
- NM_000552.5(VWF):c.3178T>C (p.Cys1060Arg) AND von Willebrand disease type 2N
- ClinVar Allele ID
- 15356
- ClinVar RefSeq Alternation Syntax
- NM_000552.5:c.3178T>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2002-11-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000000345
- ClinVar Disease
- von Willebrand disease type 2N
- Observed Origin Sample
- germline
- Pubmed
- 12406074
Drugs