Variant (rsID / SNP)

rs120074196

rs120074196 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNQ1. Location: chromosome 11, position 2,593,287. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

KCNQ1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:2593287
Cytoband: 11p15.5
HGVS: NM_000218.3(KCNQ1):c.728G>C (p.Arg243Pro)
Allele change: Missense_R243P

Associated conditions / phenotypes

Long QT syndrome 1/2, digenic|Congenital 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.