NM_005957.5(MTHFR):c.589T>G (p.Tyr197Asp) AND Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 3, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001982562.4
Allele description [Variation Report for NM_005957.5(MTHFR):c.589T>G (p.Tyr197Asp)]
NM_005957.5(MTHFR):c.589T>G (p.Tyr197Asp)
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
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Sucrase/ferredoxin-like family protein [Arabidopsis thaliana]
Sucrase/ferredoxin-like family protein [Arabidopsis thaliana]gi|15237439|ref|NP_198867.1|Protein
-
DCD (Development and Cell Death) domain protein [Arabidopsis thaliana]
DCD (Development and Cell Death) domain protein [Arabidopsis thaliana]gi|15226909|ref|NP_181059.1|Protein
-
Ribosomal protein S5 domain 2-like superfamily protein [Arabidopsis thaliana]
Ribosomal protein S5 domain 2-like superfamily protein [Arabidopsis thaliana]gi|30693135|ref|NP_190477.2|Protein
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Last Updated: Jun 23, 2024