NM_001040716.2(PC):c.2586T>C (p.Tyr862=) AND Pyruvate carboxylase deficiency
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Oct 22, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001510715.7
Allele description [Variation Report for NM_001040716.2(PC):c.2586T>C (p.Tyr862=)]
NM_001040716.2(PC):c.2586T>C (p.Tyr862=)
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
-
IS3 family transposase [Limosilactobacillus fermentum]
IS3 family transposase [Limosilactobacillus fermentum]gi|2811615883|gnl|PRJNA1153415|ACEP 640|gb|XHH99697.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024