Variant: rs28936370 

    present in Gene: ABCC8
    present in Chromosome: 11
    Position on Chromosome: 17396980
    Alleles of this Variant: C/G;T

rs28936370 in ABCC8 gene and Hyperinsulinemic hypoglycemia, familial, 1 PMID 10202168 1999 Clinical features of 52 neonates with hyperinsulinism.

PMID 8923011 1996 Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews.

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

PMID 11867634 2002 Identification of a familial hyperinsulinism-causing mutation in the sulfonylurea receptor 1 that prevents normal trafficking and function of KATP channels.

PMID 12364426 2002 Acute insulin response tests for the differential diagnosis of congenital hyperinsulinism.

PMID 12941782 2003 Clinical and molecular characterization of a dominant form of congenital hyperinsulinism caused by a mutation in the high-affinity sulfonylurea receptor.

PMID 9648840 1998 Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy.

PMID 11226335 2001 Defective trafficking and function of KATP channels caused by a sulfonylurea receptor 1 mutation associated with persistent hyperinsulinemic hypoglycemia of infancy.

PMID 24814349 2015 Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism.

PMID 11018078 2000 Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1.

PMID 10334322 1999 A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland.

PMID 9769320 1998 Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia.

PMID 8650576 1996 Adenosine diphosphate as an intracellular regulator of insulin secretion.

PMID 15562009 2005 Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes.

PMID 8751851 1996 Inactivation of the first nucleotide-binding fold of the sulfonylurea receptor, and familial persistent hyperinsulinemic hypoglycemia of infancy.

PMID 15579781 2004 Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity.

PMID 25720052 2015 Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture.

PMID 9618169 1998 Genetic heterogeneity in familial hyperinsulinism.

PMID 10615958 2000 Genetic analysis of Japanese patients with persistent hyperinsulinemic hypoglycemia of infancy: nucleotide-binding fold-2 mutation impairs cooperative binding of adenine nucleotides to sulfonylurea receptor 1.

PMID 16357843 2006 Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism.

rs28936370 in ABCC8 gene and Hypoglycemia, leucine-induced PMID 15356046 2004 Familial leucine-sensitive hypoglycemia of infancy due to a dominant mutation of the beta-cell sulfonylurea receptor.