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Variant (rsID / SNP)

rs794728537

KCNQ1

rs794728537 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNQ1. Location: chromosome 11, position 2,799,253. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

KCNQ1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
11:2799253
Cytoband
11p15.5
HGVS
NM_000218.3(KCNQ1):c.1780C>T (p.Arg594Ter)
Allele change
Nonsense_R594X

Associated conditions / phenotypes

Long QT syndrome 1|Long QT syndrome|Congenital long QT syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.