Variant (rsID / SNP)
rs2234916
rs2234916 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNE2. Location: chromosome 21, position 35,742,799. 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
- 21:35742799
- Cytoband
- 21q22.11
- HGVS
- NM_172201.2(KCNE2):c.22A>G (p.Thr8Ala)
- Allele change
- Missense_T8A
Associated conditions / phenotypes
Long QT syndrome, drug-associated|Cardiovascular phenotype|Long QT syndrome|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.