NM_001040716.2(PC):c.585G>C (p.Ala195=) AND Pyruvate carboxylase deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 18, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002112679.6
Allele description [Variation Report for NM_001040716.2(PC):c.585G>C (p.Ala195=)]
NM_001040716.2(PC):c.585G>C (p.Ala195=)
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
-
unnamed protein product [Homo sapiens]
unnamed protein product [Homo sapiens]gi|193787254|dbj|BAG52460.1|Protein
-
Background - Future Research Needs for the Integration of Mental Health/Substanc...
Background - Future Research Needs for the Integration of Mental Health/Substance Abuse and Primary Care
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024