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Variant (rsID / SNP)

rs120074188

KCNQ1

rs120074188 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNQ1. Location: chromosome 11, position 2,790,132. 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
single nucleotide variant
Chromosome / position
11:2790132
Cytoband
11p15.5
HGVS
NM_000218.3(KCNQ1):c.1573G>A (p.Ala525Thr)
Allele change
Missense_A525T

Associated conditions / phenotypes

Long QT syndrome 1, recessive|Congenital long QT syndrome|Cardiovascular phenotype|Long QT syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.