Genetics University — Research, Education, Medical Genetics
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Gene entry

LIPT1

lipoyltransferase 1

Chromosome
2
Cytoband
2q11.2
Variants (rsID)
4

LIPT1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2q11.2). Its official name is “lipoyltransferase 1”. The reference table lists 4 variants (rsID) for this gene.

Clinically classified variants

3 reference-table entries with clinical significance.

  • rs116463717Benignsingle nucleotide variant
  • rs3791211Benignsingle nucleotide variant
  • rs137891647Pathogenicsingle nucleotide variantLipoyl transferase 1 deficiency

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.