Annotation Detail
Information
- Associated Genes
- F5
- Associated Variants
-
NM_000130.5(F5):c.1601= (p.Arg534=) AND not provided
F5 p.Gln534Arg (p.Q534R) ( ENST00000367797.9, ENST00000367796.3 ) - Associated Disease
- Congenital factor V deficiency
- Source Database
- ClinVar
- Description
- NM_000130.5(F5):c.1601= (p.Arg534=) AND Congenital factor V deficiency
- ClinVar Allele ID
- 227743
- ClinVar RefSeq Alternation Syntax
- NM_000130.5:c.1601=
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-02-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003761828
- ClinVar Disease
- Congenital factor V deficiency
- Observed Origin Sample
- germline
Drugs