Variant (rsID / SNP)

rs199472702

rs199472702 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNQ1. Location: chromosome 11, position 2,591,984. 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: 11:2591984
Cytoband: 11p15.5
HGVS: NM_000218.3(KCNQ1):c.604G>A (p.Asp202Asn)
Allele change: Missense_D202N

Associated conditions / phenotypes

Congenital long QT syndrome|Cardiovascular phenotype|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.