NM_000130.5(F5):c.3257T>C (p.Leu1086Ser) AND Congenital factor V deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 4, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003595766.2
Allele description [Variation Report for NM_000130.5(F5):c.3257T>C (p.Leu1086Ser)]
NM_000130.5(F5):c.3257T>C (p.Leu1086Ser)
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 13, 2024