Variant: rs1057516317 

    present in Gene: ABCC8
    present in Chromosome: 11
    Position on Chromosome: 17402737
    Alleles of this Variant: C/-

rs1057516317 in ABCC8 gene and Congenital Hyperinsulinism PMID 17378627 2007 Genotype-phenotype associations in patients with severe hyperinsulinism of infancy.

PMID 20685672 2010 ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism.

PMID 23275527 2013 Genotype and phenotype correlations in 417 children with congenital hyperinsulinism.

PMID 27188453 2016 Clinical and genetic characterization of congenital hyperinsulinism in Spain.

PMID 16429405 2006 Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI).

rs1057516317 in ABCC8 gene and Hyperinsulinemic hypoglycemia, familial, 1 PMID 14692646 2004 Histopathology of congenital hyperinsulinism: retrospective study with genotype correlations.

PMID 16429405 2006 Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI).

PMID 18339976 2008 Glucose intolerance and diabetes are observed in the long-term follow-up of nonpancreatectomized patients with persistent hyperinsulinemic hypoglycemia of infancy due to mutations in the ABCC8 gene.