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Gene entry

PIGA

phosphatidylinositol glycan anchor biosynthesis class A

Chromosome
X
Cytoband
Xp22.2
Variants (rsID)
9

PIGA is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome X (region Xp22.2). Its official name is “phosphatidylinositol glycan anchor biosynthesis class A”. The reference table lists 9 variants (rsID) for this gene.

Clinically classified variants

4 reference-table entries with clinical significance.

  • rs34422225Benignsingle nucleotide variantMultiple congenital anomalies-hypotonia-seizures syndrome 2|History of neurodevelopmental disorder
  • rs199422233Pathogenicsingle nucleotide variantParoxysmal nocturnal hemoglobinuria
  • rs587777396Pathogenicsingle nucleotide variantMultiple congenital anomalies-hypotonia-seizures syndrome 2
  • rs587777399PathogenicDeletionNeurodevelopmental disorder with epilepsy and hemochromatosis|Multiple congenital anomalies-hypotonia-seizures syndrome 2

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.