NM_016579.4(CD320):c.427G>A (p.Asp143Asn) AND Methylmalonic acidemia due to transcobalamin receptor defect
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 1, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003855027.3
Allele description [Variation Report for NM_016579.4(CD320):c.427G>A (p.Asp143Asn)]
NM_016579.4(CD320):c.427G>A (p.Asp143Asn)
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 RFPL2 full length open reading frame (ORF) cDNA clone (cDNA clone C...
Homo sapiens RFPL2 full length open reading frame (ORF) cDNA clone (cDNA clone C22ORF:pGEM.RFPL2.V2)gi|47678656|emb|CR456563.1|Nucleotide
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Last Updated: Oct 8, 2024