NM_001040716.2(PC):c.2790G>A (p.Glu930=) AND Pyruvate carboxylase deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003602779.2
Allele description [Variation Report for NM_001040716.2(PC):c.2790G>A (p.Glu930=)]
NM_001040716.2(PC):c.2790G>A (p.Glu930=)
Condition(s)
- Name:
- Pyruvate carboxylase deficiency
- Synonyms:
- ATAXIA WITH LACTIC ACIDOSIS II; PC deficiency; Ataxia with lactic acidosis 2; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009949; MedGen: C0034341; Orphanet: 3008; OMIM: 266150
-
conserved hypothetical protein [Aspergillus terreus NIH2624]
conserved hypothetical protein [Aspergillus terreus NIH2624]gi|114188735|gb|EAU30435.1||gnl|WGS |ATET_09298Protein
-
putative polyol transported protein 2 [Hevea brasiliensis]
putative polyol transported protein 2 [Hevea brasiliensis]gi|167859969|emb|CAP58707.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024