Variant (rsID / SNP)
rs1800853
rs1800853 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCC8. Location: chromosome 11, position 17,417,496. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
ABCC8Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:17417496
- Cytoband
- 11p15.1
- HGVS
- NM_000352.6(ABCC8):c.4120-19C>T
- Allele change
- Silent
Associated conditions / phenotypes
Hereditary hyperinsulinism|Diabetes mellitus, permanent neonatal 3|Leucine-induced hypoglycemia|Diabetes mellitus, transient neonatal, 2|Hyperinsulinemic hypoglycemia, familial, 1|Hyperinsulinemia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.