Annotation Detail

Information
Associated Genes
VWF
Associated Variants
VWF p.Arg1205His (p.R1205H) ( ENST00000261405.10 )
VWF p.Arg1205His (p.R1205H) ( ENST00000261405.10 )
Source Database
ClinVar
Description
NM_000552.5(VWF):c.3614G>A (p.Arg1205His) AND von Willebrand factor Vicenza
ClinVar Allele ID
15347
ClinVar RefSeq Alternation Syntax
NM_000552.5:c.3614G>A
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2006-11-01
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000000336
Observed Origin Sample
germline
Pubmed
3257148
Pubmed
11756169
Pubmed
10669167
Pubmed
8456430
Pubmed
9253800
Pubmed
16925796
Pubmed
16889557
Pubmed
17080221
Pubmed
12043692
Drugs