NM_016579.4(CD320):c.446C>T (p.Thr149Met) AND Methylmalonic acidemia due to transcobalamin receptor defect
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 12, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002947961.3
Allele description [Variation Report for NM_016579.4(CD320):c.446C>T (p.Thr149Met)]
NM_016579.4(CD320):c.446C>T (p.Thr149Met)
Condition(s)
- Name:
- Methylmalonic acidemia due to transcobalamin receptor defect (MATR)
- Synonyms:
- METHYLMALONIC ACIDEMIA, TCblR TYPE; Methylmalonic aciduria due to transcobalamin receptor defect; METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT
- Identifiers:
- MONDO: MONDO:0013341; MedGen: C4749905; Orphanet: 280183; OMIM: 613646
Assertion and evidence details
Last Updated: Oct 8, 2024