NM_172250.3(MMAA):c.303A>G (p.Leu101=) AND Methylmalonic aciduria, cblA type
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 25, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003501490.2
Allele description [Variation Report for NM_172250.3(MMAA):c.303A>G (p.Leu101=)]
NM_172250.3(MMAA):c.303A>G (p.Leu101=)
Condition(s)
- Name:
- Methylmalonic aciduria, cblA type (MACA)
- 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
-
DNA binding protein with alpha box domain [Stemphylium sp. EGS29-161]
DNA binding protein with alpha box domain [Stemphylium sp. EGS29-161]gi|37813367|gb|AAR04456.1|Protein
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024