Variant (rsID / SNP)

rs397508103

rs397508103 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNQ1. Location: chromosome 11, position 2,869,094. Clinical significance in the table: Pathogenic.

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Reference-table entries

KCNQ1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 11:2869094
Cytoband: 11p15.4
HGVS: NM_000218.3(KCNQ1):c.1892_1911del (p.Pro631fs)

Associated conditions / phenotypes

Jervell and Lange-Nielsen syndrome 1|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.