Variant (rsID / SNP)
rs1801261
rs1801261 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCC8. Location: chromosome 11, position 17,436,865. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
ABCC8Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:17436865
- Cytoband
- 11p15.1
- HGVS
- NM_000352.6(ABCC8):c.2277C>T (p.Thr759=)
- Allele change
- Synonymous_T759T
Associated conditions / phenotypes
Diabetes mellitus, transient neonatal, 2|Hyperinsulinemic hypoglycemia, familial, 1|Permanent neonatal diabetes mellitus|Hereditary hyperinsulinism
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
