Variant: rs145303331

present in Gene: PIGL present in Chromosome: 17 Position on Chromosome: 16316686 Alleles of this Variant: T/C

rs145303331 in PIGL gene and Zunich neuroectodermal syndrome PMID 22444671 2012 Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome.