NM_172250.3(MMAA):c.7A>G (p.Met3Val) AND Methylmalonic aciduria, cblA type
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 26, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001990935.3
Allele description [Variation Report for NM_172250.3(MMAA):c.7A>G (p.Met3Val)]
NM_172250.3(MMAA):c.7A>G (p.Met3Val)
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
-
os15h06.x5 NCI_CGAP_Kid5 Homo sapiens cDNA clone IMAGE:1605467 3', mRNA sequence
os15h06.x5 NCI_CGAP_Kid5 Homo sapiens cDNA clone IMAGE:1605467 3', mRNA sequencegi|5439734|gnl|dbEST|2908275|gb|AI8 .1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Oct 8, 2024