NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) AND Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- Germline classification:
- Conflicting interpretations of pathogenicity (5 submissions)
- Last evaluated:
- Feb 1, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001030751.21
Allele description [Variation Report for NM_005957.5(MTHFR):c.665C>T (p.Ala222Val)]
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val)
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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Homo sapiens cDNA FLJ50039 complete cds, highly similar to Homo sapiens solute c...
Homo sapiens cDNA FLJ50039 complete cds, highly similar to Homo sapiens solute carrier family 25, member 24, transcript variant 1, mRNAgi|194385349|dbj|AK304165.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024