Variant (rsID / SNP)
rs1805127
rs1805127 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNE1. Location: chromosome 21, position 35,821,821. Clinical significance in the table: Benign.
Reference-table entries
KCNE1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 21:35821821
- Cytoband
- 21q22.12
- HGVS
- NM_000219.6(KCNE1):c.112A>G (p.Ser38Gly)
- Allele change
- Missense_S38G
Associated conditions / phenotypes
Noise induced hearing loss|Cardiovascular phenotype|Jervell and Lange-Nielsen syndrome 2|Congenital long QT syndrome|Long QT syndrome|Long QT syndrome 5
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.