Variant: rs139073416 

    present in Gene: PIGV
    present in Chromosome: 1
    Position on Chromosome: 26795056
    Alleles of this Variant: C/A;T

rs139073416 in PIGV gene and HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 PMID 20802478 2010 Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome.

PMID 22315194 2012 Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome).

PMID 21739589 2011 Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum.

PMID 24129430 2014 Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome.

PMID 22228761 2012 Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome.

rs139073416 in PIGV gene and Hyperphosphatasia with Mental Retardation PMID 20802478 2010 Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome.

PMID 22315194 2012 Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome).

PMID 21739589 2011 Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum.

PMID 22228761 2012 Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome.

PMID 24129430 2014 Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome.