Variant (rsID / SNP)

rs794728562

rs794728562 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNQ1. Location: chromosome 11, position 2,798,215. 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: Deletion
Chromosome / position: 11:2798215
Cytoband: 11p15.5
HGVS: NM_000218.2(KCNQ1):c.1686delG

Associated conditions / phenotypes

Long QT syndrome|Congenital long QT syndrome

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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