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Variant (rsID / SNP)

rs142511345

KCNE1

rs142511345 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNE1. Location: chromosome 21, position 35,821,559. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

KCNE1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
21:35821559
Cytoband
21q22.12
HGVS
NM_000219.6(KCNE1):c.374C>T (p.Thr125Met)
Allele change
Missense_T125M

Associated conditions / phenotypes

Congenital long QT syndrome|Long QT syndrome|Jervell and Lange-Nielsen syndrome 2|Cardiovascular phenotype|Long QT syndrome 5

Public references

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