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Gene entry

PNPLA6

patatin like domain 6, lysophospholipase

Chromosome
19
Cytoband
19p13.2
Variants (rsID)
15

PNPLA6 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 19 (region 19p13.2). Its official name is “patatin like domain 6, lysophospholipase”. The reference table lists 15 variants (rsID) for this gene.

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Clinically classified variants

5 reference-table entries with clinical significance.

  • rs112133109Benignsingle nucleotide variantHereditary spastic paraplegia 39|Hereditary spastic paraplegia
  • rs145178162Benignsingle nucleotide variantHereditary spastic paraplegia 39|Hereditary spastic paraplegia
  • rs149871062Conflicting interpretationssingle nucleotide variantHereditary spastic paraplegia 39
  • rs761103593Conflicting interpretationssingle nucleotide variantHereditary spastic paraplegia 39
  • rs606231167PathogenicDuplicationHereditary spastic paraplegia 39|Laurence-Moon syndrome|Trichomegaly-retina pigmentary degeneration-dwarfism syndrome|PNPLA6-related disorders|Inborn genetic diseases|Ataxia-hypogonadism-choroidal dystrophy syndrome|Hereditary spastic paraplegia

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.