Variant (rsID / SNP)
rs147750704
rs147750704 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNJ2. Location: chromosome 17, position 68,171,457. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
KCNJ2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:68171457
- Cytoband
- 17q24.3
- HGVS
- NM_000891.3(KCNJ2):c.277G>A (p.Val93Ile)
- Allele change
- Missense_V93I
Associated conditions / phenotypes
Atrial fibrillation, familial, 9|Atrial fibrillation|Short QT syndrome type 3|Andersen Tawil syndrome|Andersen Tawil syndrome|Short QT syndrome type 3
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.