HNF1A, HNF1 homeobox A, 6927

N. diseases: 292; N. variants: 105
Disease: Hypoglycemia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853238
rs137853238
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
CUI: C0020615
Disease:
Hypoglycemia 		0.020 GeneticVariation BEFREE Here, we report on a 40-year-old male patient with HNF1A mutation p.Arg272His (c.815G>A) having a history of fetal macrosomia (4750 g, 59 cm), and, at least, one attack of symptomatic hypoglycemia in childhood. 21648289 2011
dbSNP: rs137853238
rs137853238
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
CUI: C0020615
Disease:
Hypoglycemia 		0.020 GeneticVariation BEFREE Here, we report a 40-year-old male patient with HNFJA mutation p.Arg272His (c.815G>A) with a history of fetal macrosomia (4750 g, 59 cm) and, at least, one attack of symptomatic hypoglycemia in childhood. 21823540 2011