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.
