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Variant (rsID / SNP)

rs144917638

KCNE1

rs144917638 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNE1. Location: chromosome 21, position 35,821,904. 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
21:35821904
Cytoband
21q22.12
HGVS
NM_000219.6(KCNE1):c.29C>T (p.Thr10Met)
Allele change
Missense_T10M

Associated conditions / phenotypes

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

Public references

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