Variant (rsID / SNP)
rs5215
rs5215 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNJ11. Location: chromosome 11, position 17,408,630. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
KCNJ11Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:17408630
- Cytoband
- 11p15.1
- HGVS
- NM_000525.4(KCNJ11):c.1009G>A (p.Val337Ile)
- Allele change
- Missense_V250I
Associated conditions / phenotypes
Diabetes mellitus, transient neonatal, 3|Maturity-onset diabetes of the young type 13|Hyperinsulinemic hypoglycemia, familial, 2|Permanent neonatal diabetes mellitus|Diabetes mellitus, permanent neonatal 2|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.