Variant (rsID / SNP)
rs74315445
rs74315445 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNE1. Location: chromosome 21, position 35,821,707. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
KCNE1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 21:35821707
- Cytoband
- 21q22.12
- HGVS
- NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn)
- Allele change
- Missense_D76N
Associated conditions / phenotypes
Jervell and Lange-Nielsen syndrome 2|Long QT syndrome 5|Congenital long QT syndrome|Jervell and Lange-Nielsen syndrome 1|Cardiovascular phenotype|Long QT syndrome|Arrhythmogenic right ventricular cardiomyopathy|Brugada syndrome|Sudden unexplained death|Jervell and Lange-Nielsen syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.