Variant (rsID / SNP)
rs1057517742
rs1057517742 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNH2. Location: chromosome 7, position 150,655,518. Clinical significance in the table: Pathogenic.
Reference-table entries
KCNH2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:150655518
- Cytoband
- 7q36.1
- HGVS
- NM_000238.4(KCNH2):c.545C>A (p.Ser182Ter)
- Allele change
- Nonsense_S182X
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.