Annotation Detail

Information
Associated Genes
VWF
Associated Variants
VWF p.Arg1659Ter (p.R1659*) ( ENST00000261405.10 )
VWF p.Arg1659Ter (p.R1659*) ( ENST00000261405.10 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_000552.5(VWF):c.4975C>T (p.Arg1659Ter) AND not provided
ClinVar Allele ID
15336
ClinVar RefSeq Alternation Syntax
NM_000552.5:c.4975C>T
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2022-10-02
Clinical Significance Review Status
criteria provided, multiple submitters, no conflicts
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000086820
ClinVar Disease
not provided
Observed Origin Sample
germline
Observed Origin Sample
not provided
Observed Origin Sample
unknown
Drugs