Annotation Detail
Information
- Associated Genes
- F5
- Associated Variants
-
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) AND Ischemic stroke
F5 p.Arg534Gln (p.R534Q) ( ENST00000367796.3, ENST00000367797.9 ) - Associated Disease
- Congenital factor V deficiency
- Source Database
- ClinVar
- Description
- NM_000130.4(F5):c.1601G>A (p.Arg534Gln) AND Congenital factor V deficiency
- ClinVar Allele ID
- 15681
- ClinVar RefSeq Alternation Syntax
- NM_000130.5:c.1601G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2024-01-31
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003764502
- ClinVar Disease
- Congenital factor V deficiency
- Observed Origin Sample
- germline
Drugs