Variant (rsID / SNP)

rs199473383

rs199473383 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNJ2. Location: chromosome 17, position 68,171,824. Clinical significance in the table: Pathogenic.

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Reference-table entries

KCNJ2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:68171824
Cytoband: 17q24.3
HGVS: NM_000891.3(KCNJ2):c.644G>A (p.Gly215Asp)
Allele change: Missense_G215D

Associated conditions / phenotypes

Congenital long QT syndrome|Andersen Tawil syndrome|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.