NM_016579.4(CD320):c.761G>A (p.Arg254Gln) AND Methylmalonic acidemia due to transcobalamin receptor defect
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 13, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001856901.6
Allele description [Variation Report for NM_016579.4(CD320):c.761G>A (p.Arg254Gln)]
NM_016579.4(CD320):c.761G>A (p.Arg254Gln)
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
-
fd20c02.x1 Sugano Kawakami zebrafish DRA Danio rerio cDNA clone IMAGE:2352098 3'...
fd20c02.x1 Sugano Kawakami zebrafish DRA Danio rerio cDNA clone IMAGE:2352098 3', mRNA sequencegi|5039722|gnl|dbEST|2630642|gb|AI7 .1|Nucleotide
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Last Updated: Oct 8, 2024