Gene entry
ABCC8
ATP binding cassette subfamily C member 8
- Chromosome
- 11
- Cytoband
- 11p15.1
- Variants (rsID)
- 121
ABCC8 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 11 (region 11p15.1). Its official name is “ATP binding cassette subfamily C member 8”. The reference table lists 121 variants (rsID) for this gene.
Clinically classified variants
42 reference-table entries with clinical significance.
- rs113873225Benignsingle nucleotide variantPermanent neonatal diabetes mellitus|Hyperinsulinemic hypoglycemia, familial, 1|Diabetes mellitus, transient neonatal, 2|Hereditary hyperinsulinism|Transitory neonatal diabetes mellitus
- rs1799854Benignsingle nucleotide variantPermanent neonatal diabetes mellitus|Diabetes mellitus, transient neonatal, 2|Hyperinsulinemic hypoglycemia, familial, 1|Hereditary hyperinsulinism|Leucine-induced hypoglycemia|Diabetes mellitus, permanent neonatal 3|Type 2 diabetes mellitus
- rs1799859Benignsingle nucleotide variantHyperinsulinism, Dominant/Recessive|Transient Neonatal Diabetes, Dominant|Permanent neonatal diabetes mellitus|Hyperinsulinemic hypoglycemia, familial, 1|Hereditary hyperinsulinism|Leucine-induced hypoglycemia|Diabetes mellitus, permanent neonatal 3|Diabetes mellitus, transient neonatal, 2|Type 2 diabetes mellitus
- rs1801261Benignsingle nucleotide variantDiabetes mellitus, transient neonatal, 2|Hyperinsulinemic hypoglycemia, familial, 1|Permanent neonatal diabetes mellitus|Hereditary hyperinsulinism
- rs4148619Benignsingle nucleotide variantHyperinsulinemic hypoglycemia, familial, 1|Permanent neonatal diabetes mellitus|Diabetes mellitus, transient neonatal, 2|Hereditary hyperinsulinism
- rs5219Benignsingle nucleotide variantExercise stress response, impaired, association with|Diabetes mellitus type 2, susceptibility to|Permanent neonatal diabetes mellitus|Hyperinsulinism, Dominant/Recessive|Transient Neonatal Diabetes, Dominant|Maturity onset diabetes mellitus in young|Hyperinsulinemic hypoglycemia, familial, 2|Diabetes mellitus, transient neonatal, 3|Maturity-onset diabetes of the young type 13|Type 2 diabetes mellitus
- rs757110Benignsingle nucleotide variantHyperinsulinism, Dominant/Recessive|Transient Neonatal Diabetes, Dominant|Permanent neonatal diabetes mellitus|Hereditary hyperinsulinism|Leucine-induced hypoglycemia|Hyperinsulinemic hypoglycemia, familial, 1|Diabetes mellitus, transient neonatal, 2|Diabetes mellitus, permanent neonatal 3|Type 2 diabetes mellitus
- rs8192695Benignsingle nucleotide variantDiabetes mellitus, transient neonatal, 2|Permanent neonatal diabetes mellitus|Hyperinsulinemic hypoglycemia, familial, 1|Hereditary hyperinsulinism|Type 2 diabetes mellitus
- rs111967655Conflicting interpretationssingle nucleotide variantDiabetes mellitus, transient neonatal, 2|Permanent neonatal diabetes mellitus|Hyperinsulinemic hypoglycemia, familial, 1|Hereditary hyperinsulinism|Transitory neonatal diabetes mellitus|Maturity onset diabetes mellitus in young
- rs117874766Conflicting interpretationssingle nucleotide variantDiabetes mellitus, transient neonatal, 2|Permanent neonatal diabetes mellitus|Hyperinsulinemic hypoglycemia, familial, 1|Hereditary hyperinsulinism|Type 2 diabetes mellitus
- rs141322087Conflicting interpretationssingle nucleotide variantNeonatal diabetes mellitus|12 conditions|Permanent neonatal diabetes mellitus|Monogenic diabetes|Maturity onset diabetes mellitus in young|Transitory neonatal diabetes mellitus
- rs145136257Conflicting interpretationssingle nucleotide variantPermanent neonatal diabetes mellitus|Diabetes mellitus, transient neonatal, 2|Type 2 diabetes mellitus|Hyperinsulinemic hypoglycemia, familial, 1|Hereditary hyperinsulinism
- rs145673861Conflicting interpretationssingle nucleotide variantHyperinsulinemic hypoglycemia, familial, 1|Permanent neonatal diabetes mellitus|Diabetes mellitus, transient neonatal, 2
- rs147623093Conflicting interpretationssingle nucleotide variantDiabetes mellitus, transient neonatal, 2|Permanent neonatal diabetes mellitus|Hyperinsulinemic hypoglycemia, familial, 1|Hereditary hyperinsulinism|Diabetes mellitus, permanent neonatal 3|Maturity onset diabetes mellitus in young|Transitory neonatal diabetes mellitus
- rs150316347Conflicting interpretationssingle nucleotide variantDiabetes mellitus, transient neonatal, 2|Hyperinsulinemic hypoglycemia, familial, 1|Permanent neonatal diabetes mellitus|Transitory neonatal diabetes mellitus|Maturity onset diabetes mellitus in young
- rs151344623Conflicting interpretationssingle nucleotide variantHyperinsulinemic hypoglycemia, familial, 1|Familial hyperinsulinism|Diabetes mellitus, transient neonatal, 2|Permanent neonatal diabetes mellitus|Hereditary hyperinsulinism|Inborn genetic diseases
- rs1800853Conflicting interpretationssingle nucleotide variantHereditary hyperinsulinism|Diabetes mellitus, permanent neonatal 3|Leucine-induced hypoglycemia|Diabetes mellitus, transient neonatal, 2|Hyperinsulinemic hypoglycemia, familial, 1|Hyperinsulinemia
- rs193922397Conflicting interpretationssingle nucleotide variantNeonatal diabetes mellitus|Diabetes mellitus, transient neonatal, 2|Maturity onset diabetes mellitus in young|Transitory neonatal diabetes mellitus
- rs193922399Conflicting interpretationssingle nucleotide variantNeonatal diabetes mellitus|Transitory neonatal diabetes mellitus|Maturity onset diabetes mellitus in young
- rs193922403Conflicting interpretationssingle nucleotide variantNeonatal diabetes mellitus|Transitory neonatal diabetes mellitus|Maturity onset diabetes mellitus in young
- rs193922405Conflicting interpretationssingle nucleotide variantHyperinsulinemic hypoglycemia, familial, 1|Maturity onset diabetes mellitus in young|Transitory neonatal diabetes mellitus
- rs193922406Conflicting interpretationssingle nucleotide variantNeonatal diabetes mellitus|Transitory neonatal diabetes mellitus|Maturity onset diabetes mellitus in young
- rs193922408Conflicting interpretationssingle nucleotide variantNeonatal diabetes mellitus|Permanent neonatal diabetes mellitus|Hyperinsulinemic hypoglycemia, familial, 1|Transitory neonatal diabetes mellitus|Maturity onset diabetes mellitus in young
- rs2106865Conflicting interpretationssingle nucleotide variantLeucine-induced hypoglycemia|Hyperinsulinemic hypoglycemia, familial, 1|Diabetes mellitus, transient neonatal, 2|Diabetes mellitus, permanent neonatal 3|Transitory neonatal diabetes mellitus|Maturity onset diabetes mellitus in young
- rs2301703Conflicting interpretationssingle nucleotide variantHyperinsulinemic hypoglycemia, familial, 1|Permanent neonatal diabetes mellitus|Diabetes mellitus, transient neonatal, 2|Diabetes mellitus, permanent neonatal 3|Leucine-induced hypoglycemia|Type 2 diabetes mellitus
- rs28936371Conflicting interpretationssingle nucleotide variantHyperinsulinemic hypoglycemia, familial, 1|Hereditary hyperinsulinism|Maturity onset diabetes mellitus in young|Transitory neonatal diabetes mellitus
- rs587783164Conflicting interpretationsDeletionHyperinsulinemic hypoglycemia, familial, 1|Hyperinsulinism, Dominant/Recessive|Permanent neonatal diabetes mellitus|Transient Neonatal Diabetes, Dominant
- rs72559722Conflicting interpretationssingle nucleotide variantHyperinsulinemic hypoglycemia, familial, 1|Permanent neonatal diabetes mellitus|Diabetes mellitus, transient neonatal, 2|Type 2 diabetes mellitus|Hyperinsulinemic hypoglycemia, familial, 1|Leucine-induced hypoglycemia|Hereditary hyperinsulinism|Transitory neonatal diabetes mellitus|Maturity onset diabetes mellitus in young
- rs739689Conflicting interpretationssingle nucleotide variantLeucine-induced hypoglycemia|Hyperinsulinemic hypoglycemia, familial, 1|Diabetes mellitus, transient neonatal, 2|Diabetes mellitus, permanent neonatal 3|Transitory neonatal diabetes mellitus|Maturity onset diabetes mellitus in young
- rs8192690Conflicting interpretationssingle nucleotide variantTransient Neonatal Diabetes, Dominant|Permanent neonatal diabetes mellitus|Maturity onset diabetes mellitus in young|Hyperinsulinism, Dominant/Recessive|Diabetes mellitus, transient neonatal, 2|Hyperinsulinemic hypoglycemia, familial, 1|Leucine-induced hypoglycemia|Diabetes mellitus, permanent neonatal 3|Hereditary hyperinsulinism|Neonatal hypoglycemia
- rs1048095Likely pathogenicsingle nucleotide variantPermanent neonatal diabetes mellitus|Neonatal diabetes mellitus
- rs193922407Likely pathogenicsingle nucleotide variantNeonatal diabetes mellitus
- rs137852671Pathogenicsingle nucleotide variantHyperinsulinemic hypoglycemia, familial, 1
- rs137852672Pathogenicsingle nucleotide variantHyperinsulinemic hypoglycemia, familial, 1
- rs137852676Pathogenicsingle nucleotide variantDiabetes mellitus, permanent neonatal 3|Familial hyperinsulinism|Hyperinsulinemic hypoglycemia, familial, 1|Hereditary hyperinsulinism
- rs193922400Pathogenicsingle nucleotide variantNeonatal diabetes mellitus|Diabetes mellitus, transient neonatal, 2
- rs193922401Pathogenicsingle nucleotide variantNeonatal diabetes mellitus
- rs193922402Pathogenicsingle nucleotide variantHyperinsulinemic hypoglycemia, familial, 1|Permanent neonatal diabetes mellitus|Diabetes mellitus, transient neonatal, 2|Type 2 diabetes mellitus|Leucine-induced hypoglycemia|Hyperinsulinemic hypoglycemia, familial, 1|Hereditary hyperinsulinism
- rs28936370Pathogenicsingle nucleotide variantHyperinsulinemic hypoglycemia, familial, 1
- rs28938469Pathogenicsingle nucleotide variantHyperinsulinemic hypoglycemia, familial, 1|Hereditary hyperinsulinism
- rs148529020Uncertain significancesingle nucleotide variantHyperinsulinemic hypoglycemia, familial, 1|Monogenic diabetes|Hereditary hyperinsulinism
- rs200563930Uncertain significancesingle nucleotide variantMonogenic diabetes|Hyperinsulinemic hypoglycemia, familial, 1
Other listed variants
- rs722341
- rs873314
- rs916827
- rs1048094
- rs1319447
- rs2073583
- rs2074312
- rs2074315
- rs2074317
- rs2077654
- rs2237992
- rs2283255
- rs2283261
- rs2299638
- rs2299640
- rs2301704
- rs3758953
- rs4148613
- rs4148618
- rs4148627
- rs4148638
- rs4148640
- rs4148641
- rs4756888
- rs4757517
- rs7106250
- rs7120249
- rs7947462
- rs10400389
- rs10400391
- rs10766398
- rs10832786
- rs11024286
- rs11024289
- rs12226635
- rs12288315
- rs12293803
- rs12361702
- rs17846721
- rs17846740
- rs17846762
- rs17846770
- rs34685979
- rs34731885
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.