NM_172250.3(MMAA):c.202C>T (p.Gln68Ter) AND Methylmalonic aciduria, cblA type
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Jan 13, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000509034.7
Allele description [Variation Report for NM_172250.3(MMAA):c.202C>T (p.Gln68Ter)]
NM_172250.3(MMAA):c.202C>T (p.Gln68Ter)
Condition(s)
- Name:
- Methylmalonic aciduria, cblA type
- Synonyms:
- Methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cbla complementation type; MMA cbl A type; Methylmalonic acidemia cblA type; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009613; MedGen: C1855109; Orphanet: 28; Orphanet: 79310; OMIM: 251100
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Table 2, Summary of McIlwaine 2014 - Cystic Fibrosis
Table 2, Summary of McIlwaine 2014 - Cystic Fibrosis
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Table 4, Cost of oscillating and PEP devices - Cystic Fibrosis
Table 4, Cost of oscillating and PEP devices - Cystic Fibrosis
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024