NM_005957.5(MTHFR):c.1011G>T (p.Gly337=) AND Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Nov 15, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004577963.1
Allele description [Variation Report for NM_005957.5(MTHFR):c.1011G>T (p.Gly337=)]
NM_005957.5(MTHFR):c.1011G>T (p.Gly337=)
Condition(s)
- Name:
- Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- Synonyms:
- HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY; Homocysteinemia due to MTHFR deficiency; Homocysteinemia due to methylenetetrahydro-folate reductase deficiency; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009353; MedGen: C1856061; Orphanet: 395; OMIM: 236250
Assertion and evidence details
Last Updated: Jul 7, 2024