Variant (rsID / SNP)
rs75813654
rs75813654 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNQ1. Location: chromosome 11, position 2,592,569. Clinical significance in the table: Likely benign.
Reference-table entries
KCNQ1Likely benign
- Clinical significance (as recorded)
- Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:2592569
- Cytoband
- 11p15.5
- HGVS
- NM_000218.3(KCNQ1):c.619G>A (p.Val207Met)
- Allele change
- Missense_V207M
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.