NM_172250.3(MMAA):c.302T>G (p.Leu101Ter) AND Methylmalonic aciduria, cblA type
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Dec 19, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003470139.1
Allele description [Variation Report for NM_172250.3(MMAA):c.302T>G (p.Leu101Ter)]
NM_172250.3(MMAA):c.302T>G (p.Leu101Ter)
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
-
Thioflavicoccus mobilis 8321
Thioflavicoccus mobilis 8321Thioflavicoccus mobilis 8321 genome sequencing projectBioProject
-
LOC107475320 [Arachis duranensis]
LOC107475320 [Arachis duranensis]Gene ID:107475320Gene
-
LOC130963691 [Arachis stenosperma]
LOC130963691 [Arachis stenosperma]Gene ID:130963691Gene
-
LOC112728026 [Arachis hypogaea]
LOC112728026 [Arachis hypogaea]Gene ID:112728026Gene
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024