Variant (rsID / SNP)
rs869025448
rs869025448 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNH2. Location: chromosome 7, position 150,649,667. Clinical significance in the table: Likely pathogenic.
Reference-table entries
KCNH2Likely pathogenic
- Clinical significance (as recorded)
- Likely pathogenic
- Variant type
- Duplication
- Chromosome / position
- 7:150649667
- Cytoband
- 7q36.1
- HGVS
- NM_000238.4(KCNH2):c.1402dup (p.Leu468fs)
Associated conditions / phenotypes
Long QT syndrome 2
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.