NM_015506.3(MMACHC):c.427C>T (p.Gln143Ter) AND Cobalamin C disease
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jun 1, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000674933.1
Allele description [Variation Report for NM_015506.3(MMACHC):c.427C>T (p.Gln143Ter)]
NM_015506.3(MMACHC):c.427C>T (p.Gln143Ter)
Condition(s)
- Name:
- Cobalamin C disease
- Synonyms:
- Cobalamin-C methylmalonic acidemia and homocystinuria; Methylmalonic acidemia and homocystinuria cblC type; Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010184; MedGen: C1848561; Orphanet: 26; Orphanet: 79282; OMIM: 277400
Assertion and evidence details
Last Updated: Jun 9, 2024