Variant (rsID / SNP)
rs193922402
rs193922402 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCC8. Location: chromosome 11, position 17,417,158. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
ABCC8Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:17417158
- Cytoband
- 11p15.1
- HGVS
- NM_000352.6(ABCC8):c.4306C>T (p.Arg1436Ter)
- Allele change
- Nonsense_R1436X
Associated conditions / phenotypes
Hyperinsulinemic 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
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.