NM_172250.3(MMAA):c.358C>T (p.Gln120Ter) AND Methylmalonic aciduria, cblA type
- Germline classification:
- Pathogenic (3 submissions)
- Last evaluated:
- Aug 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000203366.14
Allele description [Variation Report for NM_172250.3(MMAA):c.358C>T (p.Gln120Ter)]
NM_172250.3(MMAA):c.358C>T (p.Gln120Ter)
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
-
numb, isoform B [Drosophila melanogaster]
numb, isoform B [Drosophila melanogaster]gi|24583045|ref|NP_723460.1|Protein
-
4-hydroxybenzoyl-CoA thioesterase [Pseudomonas silesiensis]
4-hydroxybenzoyl-CoA thioesterase [Pseudomonas silesiensis]gi|1035885827|gnl|PRJNA315635|PMA3_ |gb|ANJ58801.1|Protein
-
OAS1 [Eptesicus fuscus]
OAS1 [Eptesicus fuscus]Gene ID:103287239Gene
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Last Updated: Oct 13, 2024