NM_001040716.2(PC):c.2755C>A (p.Gln919Lys) AND Pyruvate carboxylase deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 12, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002619165.1
Allele description [Variation Report for NM_001040716.2(PC):c.2755C>A (p.Gln919Lys)]
NM_001040716.2(PC):c.2755C>A (p.Gln919Lys)
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
-
CCN family member 4 precursor [Mus musculus]
CCN family member 4 precursor [Mus musculus]gi|9256533|ref|NP_061353.1|Protein
-
Structure Links for Protein (Select 1907148251) (1)
Structure
-
Gene Links for Protein (Select 1907148251) (1)
Gene
-
Camk2d calcium/calmodulin-dependent protein kinase II, delta [Mus musculus]
Camk2d calcium/calmodulin-dependent protein kinase II, delta [Mus musculus]Gene ID:108058Gene
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Feb 13, 2023