Variant: rs1555815393 

    present in Gene: HNF4A
    present in Chromosome: 20
    Position on Chromosome: 44414578
    Alleles of this Variant: T/A

rs1555815393 in HNF4A gene and Dysmorphic features PMID 8945471 1996 Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1)

PMID 17407387 2007 Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene.

PMID 11575290 2001 Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young.

PMID 9371825 1997 The maturity-onset diabetes of the young (MODY1) transcription factor HNF4alpha regulates expression of genes required for glucose transport and metabolism.

PMID 22802087 2012 Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A.

PMID 24285859 2014 The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype.

PMID 22654519 2012 Clinical features and treatment of maturity onset diabetes of the young (MODY).