NM_016579.4(CD320):c.483C>T (p.Ser161=) AND Methylmalonic acidemia due to transcobalamin receptor defect
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 28, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001519283.7
Allele description [Variation Report for NM_016579.4(CD320):c.483C>T (p.Ser161=)]
NM_016579.4(CD320):c.483C>T (p.Ser161=)
Condition(s)
- Name:
- Methylmalonic acidemia due to transcobalamin receptor defect (MATR)
- Synonyms:
- METHYLMALONIC ACIDEMIA, TCblR TYPE; Methylmalonic aciduria due to transcobalamin receptor defect; METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT
- Identifiers:
- MONDO: MONDO:0013341; MedGen: C4749905; Orphanet: 280183; OMIM: 613646
-
Homo sapiens actin filament associated protein 1 (AFAP1), transcript variant A, ...
Homo sapiens actin filament associated protein 1 (AFAP1), transcript variant A, mRNAgi|1890284547|ref|NM_001134647.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024