Variant (rsID / SNP)

rs199472713

rs199472713 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNQ1. Location: chromosome 11, position 2,593,286. Clinical significance in the table: Pathogenic.

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Reference-table entries

KCNQ1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:2593286
Cytoband: 11p15.5
HGVS: NM_000218.3(KCNQ1):c.727C>T (p.Arg243Cys)
Allele change: Missense_R243C

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.