NM_001040716.2(PC):c.2817C>T (p.Ser939=) AND Pyruvate carboxylase deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 23, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002621882.3
Allele description [Variation Report for NM_001040716.2(PC):c.2817C>T (p.Ser939=)]
NM_001040716.2(PC):c.2817C>T (p.Ser939=)
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
-
Junctional epidermolysis bullosa inversa
Junctional epidermolysis bullosa inversaMedGen
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024