NM_005957.5(MTHFR):c.534G>A (p.Leu178=) AND Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 21, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001405450.7
Allele description [Variation Report for NM_005957.5(MTHFR):c.534G>A (p.Leu178=)]
NM_005957.5(MTHFR):c.534G>A (p.Leu178=)
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
-
Caenorhabditis elegans Transmembrane 9 superfamily member (clc-17), mRNA
Caenorhabditis elegans Transmembrane 9 superfamily member (clc-17), mRNAgi|1845980351|ref|NM_171775.8|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024