Variant (rsID / SNP)

rs3453

rs3453 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNE1. Location: chromosome 21, position 35,819,063. Clinical significance in the table: Benign.

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Reference-table entries

KCNE1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 21:35819063
Cytoband: 21q22.12
HGVS: NM_000219.6(KCNE1):c.*2480A>G
Allele change: Silent

Associated conditions / phenotypes

Congenital long QT syndrome|Jervell and Lange-Nielsen syndrome 2|Long QT syndrome 5

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.