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