NM_000254.3(MTR):c.1812_1812+1insATAC AND Methylcobalamin deficiency type cblG
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 24, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003631009.2
Allele description [Variation Report for NM_000254.3(MTR):c.1812_1812+1insATAC]
NM_000254.3(MTR):c.1812_1812+1insATAC
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; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009609; MedGen: C1855128; Orphanet: 2170; Orphanet: 622; OMIM: 250940
Assertion and evidence details
Last Updated: Oct 8, 2024