NM_005570.4(LMAN1):c.1228A>T (p.Met410Leu) AND Factor V and factor VIII, combined deficiency of, type 1
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000366036.5
Allele description [Variation Report for NM_005570.4(LMAN1):c.1228A>T (p.Met410Leu)]
NM_005570.4(LMAN1):c.1228A>T (p.Met410Leu)
Condition(s)
- Name:
- Factor V and factor VIII, combined deficiency of, type 1
- Synonyms:
- FAMILIAL MULTIPLE COAGULATION FACTOR DEFICIENCY I; MULTIPLE COAGULATION FACTOR DEFICIENCY I; FMFD I; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009206; MedGen: C4551981; Orphanet: 35909; OMIM: 227300
Assertion and evidence details
Last Updated: Mar 10, 2024