rs782631230
This variant is located in the PIGG gene.
▶ClinVar annotation
Intellectual disability, autosomal recessive 53
View on ClinVar →About PIGG
This gene encodes an enzyme involved in glycosylphosphatidylinositol-anchor biosynthesis. The encoded protein, which is localized to the endoplasmic reticulum, is involved in transferring ethanoloamine phosphate to mannose 2 of glycosylphosphatidylinositol species H7 to form species H8. Allelic variants of this gene have been associated with intellectual disability, hypotonia, and early-onset seizures. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
View all PIGG variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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