NM_000254.3(MTR):c.2472A>T (p.Ala824=) AND Methylcobalamin deficiency type cblG
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 2, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001233392.7
Allele description [Variation Report for NM_000254.3(MTR):c.2472A>T (p.Ala824=)]
NM_000254.3(MTR):c.2472A>T (p.Ala824=)
Condition(s)
- Name:
- Methylcobalamin deficiency type cblG (HMAG)
- Synonyms:
- HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblG COMPLEMENTATION TYPE; HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE; Functional methionine synthase deficiency type cblG
- Identifiers:
- MONDO: MONDO:0009609; MedGen: C1855128; Orphanet: 2170; Orphanet: 622; OMIM: 250940
Assertion and evidence details
Last Updated: Feb 28, 2024