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Gene entry

PIGL

phosphatidylinositol glycan anchor biosynthesis class L

Chromosome
17
Cytoband
17p11.2
Variants (rsID)
14

PIGL is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 17 (region 17p11.2). Its official name is “phosphatidylinositol glycan anchor biosynthesis class L”. The reference table lists 14 variants (rsID) for this gene.

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Clinically classified variants

3 reference-table entries with clinical significance.

  • rs115958467Conflicting interpretationssingle nucleotide variantCHIME syndrome|Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome
  • rs145303331Conflicting interpretationssingle nucleotide variantCHIME syndrome|Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome|8 conditions
  • rs116591352Uncertain significancesingle nucleotide variantCHIME syndrome

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.