NM_005957.5(MTHFR):c.470G>A (p.Arg157Gln) AND multiple conditions
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Dec 28, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002476918.2
Allele description [Variation Report for NM_005957.5(MTHFR):c.470G>A (p.Arg157Gln)]
NM_005957.5(MTHFR):c.470G>A (p.Arg157Gln)
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
- Name:
- Neural tube defects, folate-sensitive (NTDFS)
- Synonyms:
- NTD, FOLATE-SENSITIVE
- Identifiers:
- MONDO: MONDO:0011120; MedGen: C1866558; Orphanet: 823; OMIM: 601634
- Name:
- Schizophrenia (SCZD)
- Identifiers:
- MONDO: MONDO:0005090; MeSH: D012559; MedGen: C0036341; OMIM: 181500; Human Phenotype Ontology: HP:0100753
Assertion and evidence details
Last Updated: Aug 18, 2024