Variant (rsID / SNP)

rs199472699

rs199472699 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNQ1. Location: chromosome 11, position 2,591,960. Clinical significance in the table: Uncertain significance.

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Reference-table entries

KCNQ1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 11:2591960
Cytoband: 11p15.5
HGVS: NM_000218.3(KCNQ1):c.580G>C (p.Ala194Pro)
Allele change: Missense_A194P

Associated conditions / phenotypes

Congenital long QT syndrome|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.