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Gene entry

LRPPRC

leucine rich pentatricopeptide repeat containing

Chromosome
2
Cytoband
2p21
Variants (rsID)
37

LRPPRC is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2p21). Its official name is “leucine rich pentatricopeptide repeat containing”. The reference table lists 37 variants (rsID) for this gene.

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Clinically classified variants

15 reference-table entries with clinical significance.

  • rs117077213Benignsingle nucleotide variant
  • rs118188415Benignsingle nucleotide variantCongenital lactic acidosis, Saguenay-Lac-Saint-Jean type
  • rs188424940Benignsingle nucleotide variantCongenital lactic acidosis, Saguenay-Lac-Saint-Jean type
  • rs6736282Benignsingle nucleotide variant
  • rs115507225Conflicting interpretationssingle nucleotide variantCongenital lactic acidosis, Saguenay-Lac-Saint-Jean type
  • rs116727742Conflicting interpretationssingle nucleotide variantCongenital lactic acidosis, Saguenay-Lac-Saint-Jean type
  • rs144732922Conflicting interpretationssingle nucleotide variantIntellectual disability|Seizure|Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
  • rs181626399Conflicting interpretationssingle nucleotide variantCongenital lactic acidosis, Saguenay-Lac-Saint-Jean type
  • rs184339274Conflicting interpretationssingle nucleotide variantCongenital lactic acidosis, Saguenay-Lac-Saint-Jean type
  • rs200686732Conflicting interpretationssingle nucleotide variantLeigh syndrome|Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
  • rs747766605Conflicting interpretationsDuplicationLeigh syndrome
  • rs113374262Likely benignsingle nucleotide variantCongenital lactic acidosis, Saguenay-Lac-Saint-Jean type
  • rs190007694Likely pathogenicsingle nucleotide variant
  • rs119466000Pathogenicsingle nucleotide variantCongenital lactic acidosis, Saguenay-Lac-Saint-Jean type
  • rs199727887Uncertain significancesingle nucleotide variantCongenital lactic acidosis, Saguenay-Lac-Saint-Jean type

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.