NM_005957.5(MTHFR):c.1166+18T>C AND Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 9, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003009542.3
Allele description [Variation Report for NM_005957.5(MTHFR):c.1166+18T>C]
NM_005957.5(MTHFR):c.1166+18T>C
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
-
S41 family peptidase [Segatella hominis]
S41 family peptidase [Segatella hominis]gi|2619009897|gnl|PRJNA684333|KUA50 65|gb|WOZ80954.1|Protein
-
Configuring the View - NCBI Video Vault
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znf234 zinc finger protein 234 [Xenopus tropicalis]
znf234 zinc finger protein 234 [Xenopus tropicalis]Gene ID:100496886Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024