Annotation Detail
Information
- Associated Genes
- VWF
- Associated Variants
-
VWF p.Ala542Gly (p.A542G)
(
ENST00000261405.10 )
VWF p.Ala542Gly (p.A542G) ( ENST00000261405.10 ) - Associated Disease
- Hereditary von Willebrand disease
- Source Database
- ClinVar
- Description
- NM_000552.5(VWF):c.1625C>G (p.Ala542Gly) AND Hereditary von Willebrand disease
- ClinVar Allele ID
- 373235
- ClinVar RefSeq Alternation Syntax
- NM_000552.5:c.1625C>G
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2019-02-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000852047
- ClinVar Disease
- Hereditary von Willebrand disease
- Observed Origin Sample
- unknown
Drugs