Variant (rsID / SNP)

rs199472759

rs199472759 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNQ1. Location: chromosome 11, position 2,604,759. 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: 11:2604759
Cytoband: 11p15.5
HGVS: NM_000218.3(KCNQ1):c.1016T>C (p.Phe339Ser)
Allele change: Missense_F339S

Associated conditions / phenotypes

Congenital long QT syndrome|Long QT syndrome 1

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.