Variant (rsID / SNP)
rs104894580
rs104894580 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNJ2. Location: chromosome 17, position 68,171,379. Clinical significance in the table: Pathogenic.
Reference-table entries
KCNJ2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:68171379
- Cytoband
- 17q24.3
- HGVS
- NM_000891.3(KCNJ2):c.199C>T (p.Arg67Trp)
- Allele change
- Missense_R67W
Associated conditions / phenotypes
Andersen Tawil syndrome|Congenital long QT syndrome|Atrial fibrillation, familial, 9|Short QT syndrome type 3|Andersen Tawil 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.