NM_001040716.2(PC):c.*101G>A AND Pyruvate carboxylase deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001103865.4
Allele description [Variation Report for NM_001040716.2(PC):c.*101G>A]
NM_001040716.2(PC):c.*101G>A
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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"Laboratory for Molecular Medicine, Mass General Brigham Personal... (108)
"Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine"[submitter] AND "DNAH5"[gene]SearchClinVar
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hypothetical protein BRAFLDRAFT_275391 [Branchiostoma floridae]
hypothetical protein BRAFLDRAFT_275391 [Branchiostoma floridae]gi|260801681|ref|XP_002595724.1||gn _WGS:ABEP|BRAFLDRAFT_275391.2Protein
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Gene neighbors for Gene (Select 317749) (9)
Gene
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Bacteria 16S ribosomal RNA gene, partial sequence.
Bacteria 16S ribosomal RNA gene, partial sequence.PopSet: 1025731650PopSet
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txid1843121[Organism:noexp] (1)
PopSet
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See more...Assertion and evidence details
Last Updated: Dec 24, 2023