Variant (rsID / SNP)
rs1064794793
rs1064794793 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNH2. Location: chromosome 7, position 150,648,071. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
KCNH2Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:150648071
- Cytoband
- 7q36.1
- HGVS
- NM_000238.4(KCNH2):c.2083C>T (p.Gln695Ter)
- Allele change
- Nonsense_Q355X
Associated conditions / phenotypes
Long QT syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.