Annotation Detail
Information
- Associated Genes
- VWF
- Associated Variants
-
VWF p.Arg1205His (p.R1205H)
(
ENST00000261405.10 )
VWF p.Arg1205His (p.R1205H) ( ENST00000261405.10 ) - Associated Disease
- VWF-related disorder
- Source Database
- ClinVar
- Description
- NM_000552.5(VWF):c.3614G>A (p.Arg1205His) AND VWF-related disorder
- ClinVar Allele ID
- 15347
- ClinVar RefSeq Alternation Syntax
- NM_000552.5:c.3614G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-10-31
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV004547447
- ClinVar Disease
- VWF-related disorder
- Observed Origin Sample
- germline
Drugs