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Variant (rsID / SNP)

rs199473653

KCNJ2

rs199473653 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNJ2. Location: chromosome 17, position 68,171,425. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

KCNJ2Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
17:68171425
Cytoband
17q24.3
HGVS
NM_000891.3(KCNJ2):c.245G>A (p.Arg82Gln)
Allele change
Missense_R82Q

Associated conditions / phenotypes

Congenital long QT syndrome|Andersen Tawil syndrome|Cardiovascular phenotype|Andersen Tawil syndrome|Short QT syndrome type 3

Public references

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