NM_000130.5(F5):c.1498T>G (p.Cys500Gly) AND Factor V deficiency
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 1, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000851702.1
Allele description [Variation Report for NM_000130.5(F5):c.1498T>G (p.Cys500Gly)]
NM_000130.5(F5):c.1498T>G (p.Cys500Gly)
Condition(s)
- Name:
- Factor V deficiency
- Synonyms:
- Reduced coagulation factor V activity
- Identifiers:
- MONDO: MONDO:0020586; MedGen: C4317320; Orphanet: 326; Human Phenotype Ontology: HP:0003225
Assertion and evidence details
Last Updated: Apr 15, 2024