Variant (rsID / SNP)

rs41312993

rs41312993 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNE1. Location: chromosome 21, position 35,819,445. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

KCNE1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 21:35819445
Cytoband: 21q22.12
HGVS: NM_000219.6(KCNE1):c.*2098T>C
Allele change: Silent

Associated conditions / phenotypes

Jervell and Lange-Nielsen syndrome 2|Long QT syndrome 5|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.