Variant (rsID / SNP)

rs914460959

rs914460959 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNQ1. Location: chromosome 11, position 2,549,208. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

KCNQ1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 11:2549208
Cytoband: 11p15.5
HGVS: NM_000218.3(KCNQ1):c.437A>G (p.Glu146Gly)
Allele change: Missense_E146G

Associated conditions / phenotypes

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.