Variant (rsID / SNP)

rs397508116

rs397508116 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNQ1. Location: chromosome 11, position 2,591,942. Clinical significance in the table: Pathogenic.

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Reference-table entries

KCNQ1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 11:2591942
Cytoband: 11p15.5
HGVS: NM_000218.3(KCNQ1):c.562del (p.Trp188fs)

Associated conditions / phenotypes

Long QT syndrome 1/2, digenic

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.