Variant: rs747661902 

    present in Gene: PIGQ
    present in Chromosome: 16
    Position on Chromosome: 578404
    Alleles of this Variant: TG/-

rs747661902 in PIGQ gene and Dysmorphic features PMID 11418246 2001 The human GPI1 gene is required for efficient glycosylphosphatidylinositol biosynthesis.

PMID 10373468 1999 GPI1 stabilizes an enzyme essential in the first step of glycosylphosphatidylinositol biosynthesis.

PMID 9463366 1998 The first step of glycosylphosphatidylinositol biosynthesis is mediated by a complex of PIG-A, PIG-H, PIG-C and GPI1.

PMID 25558065 2015 Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

PMID 9729469 1998 Human and mouse Gpi1p homologues restore glycosylphosphatidylinositol membrane anchor biosynthesis in yeast mutants.

PMID 24852103 2014 Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic congenital diaphragmatic hernia.

PMID 25851949 2015 PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels.

PMID 24463883 2014 Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.

PMID 22265715 2012 GPI-anchor remodeling: potential functions of GPI-anchors in intracellular trafficking and membrane dynamics.

rs747661902 in PIGQ gene and Multiple congenital anomalies PMID 9463366 1998 The first step of glycosylphosphatidylinositol biosynthesis is mediated by a complex of PIG-A, PIG-H, PIG-C and GPI1.

PMID 24852103 2014 Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic congenital diaphragmatic hernia.

PMID 9729469 1998 Human and mouse Gpi1p homologues restore glycosylphosphatidylinositol membrane anchor biosynthesis in yeast mutants.

PMID 11418246 2001 The human GPI1 gene is required for efficient glycosylphosphatidylinositol biosynthesis.

PMID 25851949 2015 PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels.

PMID 25558065 2015 Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

PMID 22265715 2012 GPI-anchor remodeling: potential functions of GPI-anchors in intracellular trafficking and membrane dynamics.

PMID 10373468 1999 GPI1 stabilizes an enzyme essential in the first step of glycosylphosphatidylinositol biosynthesis.

PMID 24463883 2014 Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.

rs747661902 in PIGQ gene and Muscle hypotonia PMID 9729469 1998 Human and mouse Gpi1p homologues restore glycosylphosphatidylinositol membrane anchor biosynthesis in yeast mutants.

PMID 22265715 2012 GPI-anchor remodeling: potential functions of GPI-anchors in intracellular trafficking and membrane dynamics.

PMID 9463366 1998 The first step of glycosylphosphatidylinositol biosynthesis is mediated by a complex of PIG-A, PIG-H, PIG-C and GPI1.

PMID 24463883 2014 Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.

PMID 24852103 2014 Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic congenital diaphragmatic hernia.

PMID 11418246 2001 The human GPI1 gene is required for efficient glycosylphosphatidylinositol biosynthesis.

PMID 10373468 1999 GPI1 stabilizes an enzyme essential in the first step of glycosylphosphatidylinositol biosynthesis.

PMID 25851949 2015 PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels.

PMID 25558065 2015 Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.