Variant (rsID / SNP)

rs375330016

rs375330016 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNJ2. Location: chromosome 17, position 68,172,225. Clinical significance in the table: Uncertain significance.

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Reference-table entries

KCNJ2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 17:68172225
Cytoband: 17q24.3
HGVS: NM_000891.3(KCNJ2):c.1045G>A (p.Glu349Lys)
Allele change: Missense_E349K

Associated conditions / phenotypes

Andersen Tawil syndrome|Short QT syndrome type 3

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.