Variant (rsID / SNP)

rs794728559

rs794728559 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNQ1. Location: chromosome 11, position 2,604,771. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

KCNQ1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: Duplication
Chromosome / position: 11:2604771
Cytoband: 11p15.5
HGVS: NM_000218.3(KCNQ1):c.1029_1031dup (p.Ala344_Gly345insAla)

Associated conditions / phenotypes

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.