Variant (rsID / SNP)
rs139042529
rs139042529 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNQ1. Location: chromosome 11, position 2,591,893. Clinical significance in the table: Pathogenic.
Reference-table entries
KCNQ1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:2591893
- Cytoband
- 11p15.5
- HGVS
- NM_000218.3(KCNQ1):c.513C>G (p.Tyr171Ter)
- Allele change
- Synonymous_Y171Y
Associated conditions / phenotypes
Long QT syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.