Variant (rsID / SNP)
rs74315447
rs74315447 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNE2. Location: chromosome 21, position 35,742,938. Clinical significance in the table: Conflicting interpretations of pathogenicity; risk factor.
Reference-table entries
KCNE2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity; risk factor
- Variant type
- single nucleotide variant
- Chromosome / position
- 21:35742938
- Cytoband
- 21q22.11
- HGVS
- NM_172201.2(KCNE2):c.161T>C (p.Met54Thr)
- Allele change
- Missense_M54T
Associated conditions / phenotypes
Long QT syndrome 6|Congenital long QT syndrome|KCNE2-Related Disorders|Cardiac arrhythmia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.