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
-
Culicicapa ceylonensis voucher 2674 cytochrome b (cytb) gene, partial cds; mitoc...
Culicicapa ceylonensis voucher 2674 cytochrome b (cytb) gene, partial cds; mitochondrialgi|769471093|gb|KJ702903.1|Nucleotide
-
hypothetical protein (plasmid) [Escherichia coli]
hypothetical protein (plasmid) [Escherichia coli]gi|2481539053|dbj|BEE36041.1|Protein
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Homo sapiens cDNA, FLJ79405 complete cds, highly similar to Homo sapiens solute carrier family 25, member 24, transcript variant 1, mRNAgi|221046399|dbj|AK316506.1|Nucleotide
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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
-
Homo sapiens, clone IMAGE:5242217, mRNA
Homo sapiens, clone IMAGE:5242217, mRNAgi|24081070|gb|BC028096.1|Nucleotide
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Last Updated: Oct 13, 2024