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Variant (rsID / SNP)

rs116392938

KCNJ11

rs116392938 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNJ11. Location: chromosome 11, position 17,408,796. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

KCNJ11Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:17408796
Cytoband
11p15.1
HGVS
NM_000525.4(KCNJ11):c.843C>T (p.Leu281=)
Allele change
Synonymous_L194L

Associated conditions / phenotypes

Maturity-onset diabetes of the young type 13|Hyperinsulinemic hypoglycemia, familial, 2|Diabetes mellitus, transient neonatal, 3|Permanent neonatal diabetes mellitus|Hyperinsulinemia

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.