Variant: rs1214104267 

    present in Gene: PIGO
    present in Chromosome: 9
    Position on Chromosome: 35093040
    Alleles of this Variant: T/C

rs1214104267 in PIGO gene and HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 PMID 28337824 2017 Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties.

PMID 24049131 2013 Vitamin B6-responsive epilepsy due to inherited GPI deficiency.

PMID 22683086 2012 Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation.

PMID 28545593 2017 PIGO deficiency: palmoplantar keratoderma and novel mutations.