Variant (rsID / SNP)

rs16991654

rs16991654 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNE2. Location: chromosome 21, position 35,742,955. Clinical significance in the table: Pathogenic.

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Reference-table entries

KCNE2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 21:35742955
Cytoband: 21q22.11
HGVS: NM_172201.2(KCNE2):c.178T>C (p.Phe60Leu)
Allele change: Missense_F60L

Associated conditions / phenotypes

Long QT syndrome 3/6, digenic|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.