NM_005957.5(MTHFR):c.652G>T (p.Val218Leu) AND Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001206455.6
Allele description [Variation Report for NM_005957.5(MTHFR):c.652G>T (p.Val218Leu)]
NM_005957.5(MTHFR):c.652G>T (p.Val218Leu)
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
-
cytochrome c oxidase subunit 1, partial (mitochondrion) [Lumbricillus arenarius]
cytochrome c oxidase subunit 1, partial (mitochondrion) [Lumbricillus arenarius]gi|1018194547|gb|AMY27418.1|Protein
-
glycosyl hydrolase family 28 protein [Phocaeicola dorei]
glycosyl hydrolase family 28 protein [Phocaeicola dorei]gi|495121210|ref|WP_007846025.1|Protein
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See more...Assertion and evidence details
Last Updated: Jun 23, 2024