Variant (rsID / SNP)
rs141117135
rs141117135 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNH2. Location: chromosome 7, position 150,644,727. Clinical significance in the table: Likely benign.
Reference-table entries
KCNH2Likely benign
- Clinical significance (as recorded)
- Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:150644727
- Cytoband
- 7q36.1
- HGVS
- NM_000238.4(KCNH2):c.2932G>A (p.Glu978Lys)
- Allele change
- Missense_E638K
Associated conditions / phenotypes
Long QT syndrome|Cardiac arrhythmia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.