Annotation Detail
Information
- Associated Genes
- VWF
- Associated Variants
-
VWF p.Cys1130Phe (p.C1130F)
(
ENST00000261405.10 )
VWF p.Cys1130Phe (p.C1130F) ( ENST00000261405.10 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000552.5(VWF):c.3389G>T (p.Cys1130Phe) AND not provided
- ClinVar Allele ID
- 106138
- ClinVar RefSeq Alternation Syntax
- NM_000552.5:c.3389G>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-04-09
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000086654
- ClinVar Disease
- not provided
- Observed Origin Sample
- not provided
- Observed Origin Sample
- unknown
Drugs