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Variant (rsID / SNP)

rs193929356

KCNJ11

rs193929356 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNJ11. Location: chromosome 11, position 17,408,650. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

KCNJ11Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
11:17408650
Cytoband
11p15.1
HGVS
NM_000525.4(KCNJ11):c.989A>G (p.Tyr330Cys)
Allele change
Missense_Y243C

Associated conditions / phenotypes

Permanent neonatal diabetes mellitus|Neonatal insulin-dependent diabetes mellitus|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.