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Variant (rsID / SNP)

rs147445322

KCNQ1

rs147445322 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNQ1. Location: chromosome 11, position 2,869,033. 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
11:2869033
Cytoband
11p15.4
HGVS
NM_000218.3(KCNQ1):c.1831G>A (p.Asp611Asn)
Allele change
Missense_D611N

Associated conditions / phenotypes

Congenital long QT syndrome|Long QT syndrome|Long QT syndrome 1|Cardiac arrhythmia

Public references

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