Annotation Detail

Information
Associated Genes
VWF
Associated Variants
VWF p.Cys1060Arg (p.C1060R) ( ENST00000261405.10 )
VWF p.Cys1060Arg (p.C1060R) ( ENST00000261405.10 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_000552.5(VWF):c.3178T>C (p.Cys1060Arg) AND not provided
ClinVar Allele ID
15356
ClinVar RefSeq Alternation Syntax
NM_000552.5:c.3178T>C
Clinical Significance Description
not provided
Clinical Significance Review Status
no assertion provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000086640
ClinVar Disease
not provided
Observed Origin Sample
not provided
Drugs