Variant (rsID / SNP)
rs2301703
rs2301703 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCC8. Location: chromosome 11, position 17,484,971. 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
- 11:17484971
- Cytoband
- 11p15.1
- HGVS
- NM_000352.6(ABCC8):c.579+14C>T
- Allele change
- Silent
Associated conditions / phenotypes
Hyperinsulinemic hypoglycemia, familial, 1|Permanent neonatal diabetes mellitus|Diabetes mellitus, transient neonatal, 2|Diabetes mellitus, permanent neonatal 3|Leucine-induced hypoglycemia|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.