{{Rsnum
|rsid=80356637
|Chromosome=11
|Orientation=minus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=ABCC8
|position=17470119
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=ABCC8
}}{{omim
|id=600509
|rsnum=80356637
|variant=0016
}}{{ClinVar
|rsid=80356637
|Reversed=1
|FwdREF=T
|FwdALT=C,G
|REF=A
|ALT=C,G
|RSPOS=17491666
|CHROM=11
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050168000000000002110100
|GENEINFO=ABCC8:6833
|GENE_NAME=ABCC8
|GENE_ID=6833
|WGT=0
|VC=SNV
|CLNALLE=1; 2
|CLNHGVS=NC_000011.9:g.17491666A>C; NC_000011.9:g.17491666A>G
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=0; 1
|CLNSRCID=NBK1447; 600509.0016
|CLNCUI=C1833104,C1833104; C1833104
|CLNDBN=Permanent neonatal diabetes mellitus; Neonatal diabetes mellitus; Diabetes mellitus, permanent neonatal, with neurologic features
|Disease=Permanent neonatal diabetes mellitus; Neonatal diabetes mellitus; Diabetes mellitus
|CLNACC=RCV000020287.1; RCV000029258.1; RCV000009670.3; RCV000020286.1
|Tags=RV;PM;PMC;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet; MedGen:SNOMED_CT; MedGen
|CLNDSDBID=NBK1447:C1833104:606176:79134:99885; C0158981:49817004; C1833102
|CLNSIG=5
}}{{PMID Auto
|PMID=20936
|Title=Reactivation of enzymes by light-stimulated cleavage of reduced pyridoxal 5'-phosphate-enzyme complexes.
}}

{{PMID Auto
|PMID=17668386
|Title=Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects.
|OA=1
}}

{{PMID Auto
|PMID=18025408
|Title=Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations.
}}

{{PMID Auto
|PMID=18767144
|Title=Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism.
}}

{{PMID Auto
|PMID=19021632
|Title=Mutations in the ABCC8 (SUR1 subunit of the K(ATP) channel) gene are associated with a variable clinical phenotype.
}}

{{PMID Auto
|PMID=20922570
|Title=Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11.
}}{{PMID Auto
|PMID=16613899
|Title=A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes.
}}