Variant (rsID / SNP)
rs41282930
rs41282930 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNJ11. Location: chromosome 11, position 17,408,485. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
KCNJ11Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:17408485
- Cytoband
- 11p15.1
- HGVS
- NM_000525.4(KCNJ11):c.1154C>G (p.Ser385Cys)
- Allele change
- Missense_S298C
Associated conditions / phenotypes
Neonatal diabetes mellitus|Diabetes mellitus, transient neonatal, 3|Maturity-onset diabetes of the young type 13|Hyperinsulinemic hypoglycemia, familial, 2|Monogenic diabetes|Maturity onset diabetes mellitus in young
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.