Variant (rsID / SNP)

rs199473389

rs199473389 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNJ2. Location: chromosome 17, position 68,172,114. 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: 17:68172114
Cytoband: 17q24.3
HGVS: NM_000891.3(KCNJ2):c.934C>T (p.Arg312Cys)
Allele change: Missense_R312C

Associated conditions / phenotypes

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

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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