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Gene entry

PNPLA1

patatin like domain 1, omega-hydroxyceramide transacylase

Chromosome
6
Cytoband
6p21.31
Variants (rsID)
25

PNPLA1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 6 (region 6p21.31). Its official name is “patatin like domain 1, omega-hydroxyceramide transacylase”. The reference table lists 25 variants (rsID) for this gene.

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Clinically classified variants

4 reference-table entries with clinical significance.

  • rs12197079Benignsingle nucleotide variantAutosomal recessive congenital ichthyosis 10
  • rs12199580Benignsingle nucleotide variantAutosomal recessive congenital ichthyosis 10
  • rs34598813Benignsingle nucleotide variantAutosomal recessive congenital ichthyosis 10
  • rs4713956Benignsingle nucleotide variantAutosomal recessive congenital ichthyosis 10

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.