Variant (rsID / SNP)
rs757110
rs757110 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCC8. Location: chromosome 11, position 17,418,477. Clinical significance in the table: Benign.
Reference-table entries
ABCC8Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:17418477
- Cytoband
- 11p15.1
- HGVS
- NM_000352.6(ABCC8):c.4105G>T (p.Ala1369Ser)
- Allele change
- Missense_A1369S
Associated conditions / phenotypes
Hyperinsulinism, 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
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.