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Variant (rsID / SNP)

rs199830292

KCNJ5

rs199830292 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNJ5. Location: chromosome 11, position 128,786,525. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

KCNJ5Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:128786525
Cytoband
11q24.3
HGVS
NM_000890.5(KCNJ5):c.1159G>C (p.Gly387Arg)
Allele change
Missense_G387R

Associated conditions / phenotypes

Long QT syndrome 13|Andersen Tawil syndrome|Familial hyperaldosteronism type III|Long QT syndrome

Public references

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