NM_001040716.2(PC):c.2907G>A (p.Lys969=) AND Pyruvate carboxylase deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 14, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002584995.2
Allele description [Variation Report for NM_001040716.2(PC):c.2907G>A (p.Lys969=)]
NM_001040716.2(PC):c.2907G>A (p.Lys969=)
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
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txid1587[orgn] AND "culture-collection IMAU 10305"[All Fields] (1)
PopSet
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Bacteria 16S ribosomal RNA gene, partial sequence.
Bacteria 16S ribosomal RNA gene, partial sequence.PopSet: 306999584PopSet
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Taxonomy Links for Protein (Select 2675810803) (1)
Taxonomy
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024