NM_018368.4(LMBRD1):c.171A>G (p.Ala57=) AND Methylmalonic aciduria and homocystinuria type cblF
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 7, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003840564.1
Allele description [Variation Report for NM_018368.4(LMBRD1):c.171A>G (p.Ala57=)]
NM_018368.4(LMBRD1):c.171A>G (p.Ala57=)
Condition(s)
- Name:
- Methylmalonic aciduria and homocystinuria type cblF
- Synonyms:
- COBALAMIN F DISEASE; COBALAMIN, DEFECT IN LYSOSOMAL RELEASE OF; METHYLMALONIC ACIDEMIA AND HOMOCYSTINURIA, cblF TYPE; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010183; MedGen: C1848578; Orphanet: 79284; OMIM: 277380
Assertion and evidence details
Last Updated: Mar 5, 2024