Variant (rsID / SNP)

rs147187721

rs147187721 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNE1. Location: chromosome 21, position 35,821,761. Clinical significance in the table: Uncertain significance.

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Reference-table entries

KCNE1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 21:35821761
Cytoband: 21q22.12
HGVS: NM_000219.6(KCNE1):c.172A>C (p.Thr58Pro)
Allele change: Missense_T58P

Associated conditions / phenotypes

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.