Variant (rsID / SNP)
rs74315449
rs74315449 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNE2. Location: chromosome 21, position 35,742,856. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
KCNE2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 21:35742856
- Cytoband
- 21q22.11
- HGVS
- NM_172201.2(KCNE2):c.79C>T (p.Arg27Cys)
- Allele change
- Missense_R27C
Associated conditions / phenotypes
Atrial fibrillation, familial, 4|Atrial fibrillation|Long QT syndrome|Primary familial hypertrophic cardiomyopathy|Atrial fibrillation, familial, 4|Long QT syndrome 6|Long QT syndrome 6
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.