NM_016579.4(CD320):c.334G>A (p.Gly112Ser) AND Methylmalonic acidemia due to transcobalamin receptor defect
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 4, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001052507.7
Allele description [Variation Report for NM_016579.4(CD320):c.334G>A (p.Gly112Ser)]
NM_016579.4(CD320):c.334G>A (p.Gly112Ser)
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
-
Enterococcus faecium strain 242EA1 genomic scaffold aeked-supercont1.2, whole ge...
Enterococcus faecium strain 242EA1 genomic scaffold aeked-supercont1.2, whole genome shotgun sequencegi|1427615914|gnl|WGS:LEQU01|aeked- cont1.2|gb|KZ846216.1|Nucleotide
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RPN8 proteasome regulatory particle lid subunit RPN8 [Saccharomyces cerevisiae S...
RPN8 proteasome regulatory particle lid subunit RPN8 [Saccharomyces cerevisiae S288C]Gene ID:854435Gene
-
HNT3 DNA 5'-adenosine monophosphate hydrolase [Saccharomyces cerevisiae S288C]
HNT3 DNA 5'-adenosine monophosphate hydrolase [Saccharomyces cerevisiae S288C]Gene ID:854432Gene
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Last Updated: Oct 8, 2024