Variant (rsID / SNP)

rs74315446

rs74315446 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNE1. Location: chromosome 21, position 35,821,712. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

KCNE1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 21:35821712
Cytoband: 21q22.12
HGVS: NM_000219.6(KCNE1):c.221C>T (p.Ser74Leu)
Allele change: Missense_S74L

Associated conditions / phenotypes

Long QT syndrome 5|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.