NM_001040716.2(PC):c.2580C>T (p.Asp860=) AND Pyruvate carboxylase deficiency
- Germline classification:
- Benign (2 submissions)
- Last evaluated:
- Jan 31, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000289851.14
Allele description [Variation Report for NM_001040716.2(PC):c.2580C>T (p.Asp860=)]
NM_001040716.2(PC):c.2580C>T (p.Asp860=)
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
-
ACSL3 [Sturnira hondurensis]
ACSL3 [Sturnira hondurensis]Gene ID:118975444Gene
-
LCLAT1 [Pogona vitticeps]
LCLAT1 [Pogona vitticeps]Gene ID:110078698Gene
-
MSLN [Rana temporaria]
MSLN [Rana temporaria]Gene ID:120943253Gene
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024