Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs104894578

KCNJ2

rs104894578 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNJ2. Location: chromosome 17, position 68,171,832. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

KCNJ2Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
17:68171832
Cytoband
17q24.3
HGVS
NM_000891.3(KCNJ2):c.652C>T (p.Arg218Trp)
Allele change
Missense_R218W

Associated conditions / phenotypes

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

Public references

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