Annotation Detail

Information
Associated Genes
VWF
Associated Variants
VWF p.Arg816Trp (p.R816W) ( ENST00000261405.10 )
VWF p.Arg816Trp (p.R816W) ( ENST00000261405.10 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_000552.5(VWF):c.2446C>T (p.Arg816Trp) AND not provided
ClinVar Allele ID
15334
ClinVar RefSeq Alternation Syntax
NM_000552.5:c.2446C>T
Clinical Significance Description
Pathogenic/Likely pathogenic
Clinical Significance Last Update
2023-09-01
Clinical Significance Review Status
criteria provided, multiple submitters, no conflicts
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000086613
ClinVar Disease
not provided
Observed Origin Sample
germline
Observed Origin Sample
not provided
Drugs