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Variant (rsID / SNP)

rs74315448

KCNE2

rs74315448 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNE2. Location: chromosome 21, position 35,742,947. 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
21:35742947
Cytoband
21q22.11
HGVS
NM_172201.2(KCNE2):c.170T>C (p.Ile57Thr)
Allele change
Missense_I57T

Associated conditions / phenotypes

Long QT syndrome 6|Cardiovascular phenotype|Atrial fibrillation, familial, 4|Cardiac arrhythmia

Public references

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