Variant (rsID / SNP)

rs120074186

rs120074186 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNQ1. Location: chromosome 11, position 2,594,209. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

KCNQ1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:2594209
Cytoband: 11p15.5
HGVS: NM_000218.3(KCNQ1):c.914G>C (p.Trp305Ser)
Allele change: Missense_W305S

Associated conditions / phenotypes

Jervell and Lange-Nielsen syndrome 1|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.