NM_005957.5(MTHFR):c.1262G>C (p.Trp421Ser) AND Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- Germline classification:
- Likely pathogenic (3 submissions)
- Last evaluated:
- Aug 6, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000167612.6
Allele description [Variation Report for NM_005957.5(MTHFR):c.1262G>C (p.Trp421Ser)]
NM_005957.5(MTHFR):c.1262G>C (p.Trp421Ser)
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 CHK2 checkpoint homolog (S. pombe), mRNA (cDNA clone MGC:4081 IMAGE...
Homo sapiens CHK2 checkpoint homolog (S. pombe), mRNA (cDNA clone MGC:4081 IMAGE:3532866), complete cdsgi|38114706|gb|BC004207.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Jul 23, 2024