Variant (rsID / SNP)
rs115012103
rs115012103 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNJ5. Location: chromosome 11, position 128,781,289. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
KCNJ5Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:128781289
- Cytoband
- 11q24.3
- HGVS
- NM_000890.5(KCNJ5):c.121C>T (p.Arg41Cys)
- Allele change
- Missense_R41C
Associated conditions / phenotypes
Long QT syndrome|Cardiovascular phenotype|Familial hyperaldosteronism type III|Congenital long QT syndrome|Primary dilated cardiomyopathy|Long QT syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.