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Variant (rsID / SNP)

rs80356616

KCNJ11

rs80356616 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNJ11. Location: chromosome 11, position 17,409,464. 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
11:17409464
Cytoband
11p15.1
HGVS
NM_000525.4(KCNJ11):c.175G>A (p.Val59Met)
Allele change
Silent

Associated conditions / phenotypes

Diabetes mellitus, permanent neonatal 2|Permanent neonatal diabetes mellitus|Neonatal insulin-dependent diabetes mellitus|Transitory neonatal diabetes mellitus|Neonatal diabetes mellitus

Public references

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