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Variant (rsID / SNP)

rs183427173

KCNE2

rs183427173 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNE2. Location: chromosome 21, position 35,743,094. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

KCNE2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
21:35743094
Cytoband
21q22.11
HGVS
NM_172201.2(KCNE2):c.317C>T (p.Ser106Leu)
Allele change
Missense_S106L

Associated conditions / phenotypes

Cardiovascular phenotype|Long QT syndrome 6

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.