Variant (rsID / SNP)
rs1064793147
rs1064793147 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNH2. Location: chromosome 7, position 150,646,068. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
KCNH2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:150646068
- Cytoband
- 7q36.1
- HGVS
- NM_000238.4(KCNH2):c.2468G>A (p.Arg823Gln)
- Allele change
- Missense_R483Q
Associated conditions / phenotypes
Long QT syndrome|Cardiac arrhythmia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.