NM_005957.5(MTHFR):c.1166+8C>T AND Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Feb 13, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003637632.2
Allele description [Variation Report for NM_005957.5(MTHFR):c.1166+8C>T]
NM_005957.5(MTHFR):c.1166+8C>T
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
-
mitochondrial carnitine/acylcarnitine carrier protein-like [Dermatophagoides far...
mitochondrial carnitine/acylcarnitine carrier protein-like [Dermatophagoides farinae]gi|2205481030|ref|XP_046908443.1|Protein
-
mitochondrial carnitine/acylcarnitine carrier protein-like isoform X1 [Oreochrom...
mitochondrial carnitine/acylcarnitine carrier protein-like isoform X1 [Oreochromis aureus]gi|1779292962|ref|XP_031612982.1|Protein
-
carboxy terminal-processing peptidase [Planctellipticum variicoloris]
carboxy terminal-processing peptidase [Planctellipticum variicoloris]gi|2557462154|gnl|extdb|SH412_00333 WLD13176.1|Protein
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Last Updated: Sep 29, 2024