Annotation Detail

Information
Associated Genes
VWF
Associated Variants
VWF p.Arg1659Ter (p.R1659*) ( ENST00000261405.10 )
VWF p.Arg1659Ter (p.R1659*) ( ENST00000261405.10 )
Associated Disease
von Willebrand disease type 3
Source Database
ClinVar
Description
NM_000552.5(VWF):c.4975C>T (p.Arg1659Ter) AND von Willebrand disease type 3
ClinVar Allele ID
15336
ClinVar RefSeq Alternation Syntax
NM_000552.5:c.4975C>T
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2020-11-01
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000000322
ClinVar Disease
von Willebrand disease type 3
Observed Origin Sample
germline
Pubmed
1302613
Pubmed
1301136
Pubmed
1415226
Drugs