Variant: rs1057516281 

    present in Gene: ABCC8
    present in Chromosome: 11
    Position on Chromosome: 17398344
    Alleles of this Variant: G/A

rs1057516281 in ABCC8 gene and Hyperinsulinemic hypoglycemia, familial, 1 PMID 20943781 2011 Molecular and clinical analysis of Japanese patients with persistent congenital hyperinsulinism: predominance of paternally inherited monoallelic mutations in the KATP channel genes.

PMID 24401662 2014 Clinical and genetic evaluation of patients with KATP channel mutations from the German registry for congenital hyperinsulinism.

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

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

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.

rs1057516281 in ABCC8 gene and Hyperinsulinemic hypoglycemia, familial, 2 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.

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

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

PMID 20943781 2011 Molecular and clinical analysis of Japanese patients with persistent congenital hyperinsulinism: predominance of paternally inherited monoallelic mutations in the KATP channel genes.

PMID 23345197 2013 Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.