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Variant (rsID / SNP)

rs199472708

KCNQ1

rs199472708 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNQ1. Location: chromosome 11, position 2,593,245. 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
11:2593245
Cytoband
11p15.5
HGVS
NM_000218.3(KCNQ1):c.686G>A (p.Gly229Asp)
Allele change
Missense_G229D

Associated conditions / phenotypes

Congenital long QT syndrome|Atrial fibrillation, familial, 3|Long QT syndrome

Public references

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