Gene entry
LIPT2
lipoyl(octanoyl) transferase 2
- Chromosome
- 11
- Cytoband
- 11q13.4
- Variants (rsID)
- 2
LIPT2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 11 (region 11q13.4). Its official name is “lipoyl(octanoyl) transferase 2”. The reference table lists 2 variants (rsID) for this gene.
Clinically classified variants
1 reference-table entries with clinical significance.
- rs17215437Conflicting interpretationssingle nucleotide variantPeriodic paralysis|Cardiovascular phenotype|Syncope|Ventricular fibrillation|Brugada syndrome 6|Cardiomyopathy|Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.
