Variant (rsID / SNP)

rs148968498

rs148968498 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNE2. Location: chromosome 21, position 35,742,857. Clinical significance in the table: Likely benign.

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Reference-table entries

KCNE2Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 21:35742857
Cytoband: 21q22.11
HGVS: NM_172201.2(KCNE2):c.80G>A (p.Arg27His)
Allele change: Missense_R27H

Associated conditions / phenotypes

Congenital long QT syndrome|Long QT syndrome|Long QT syndrome 6

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.