NM_052845.4(MMAB):c.56_57delinsAA (p.Arg19Gln) AND Methylmalonic aciduria, cblB type
- Germline classification:
- Benign (2 submissions)
- Last evaluated:
- Feb 1, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000408901.20
Allele description [Variation Report for NM_052845.4(MMAB):c.56_57delinsAA (p.Arg19Gln)]
NM_052845.4(MMAB):c.56_57delinsAA (p.Arg19Gln)
Condition(s)
- Name:
- Methylmalonic aciduria, cblB type
- Synonyms:
- METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblB TYPE; Methylmalonic acidemia cblB type; Vitamin B12-responsive methylmalonic acidemia type cblB
- Identifiers:
- MONDO: MONDO:0009614; MedGen: C1855102; Orphanet: 28; Orphanet: 79311; OMIM: 251110
Assertion and evidence details
Last Updated: Sep 1, 2024