NM_000130.5(F5):c.5245C>G (p.Leu1749Val) AND Congenital factor V deficiency
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 31, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003596643.2
Allele description [Variation Report for NM_000130.5(F5):c.5245C>G (p.Leu1749Val)]
NM_000130.5(F5):c.5245C>G (p.Leu1749Val)
Condition(s)
- Name:
- Congenital factor V deficiency
- Synonyms:
- LABILE FACTOR DEFICIENCY; OWREN PARAHEMOPHILIA; PARAHEMOPHILIA; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009210; MedGen: C0015499; OMIM: 227400
Assertion and evidence details
Last Updated: Oct 8, 2024