Variant (rsID / SNP)
rs45546039
rs45546039 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN5A. Location: chromosome 3, position 38,655,272. Clinical significance in the table: Pathogenic.
Reference-table entries
SCN5APathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:38655272
- Cytoband
- 3p22.2
- HGVS
- NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln)
- Allele change
- Silent
Associated conditions / phenotypes
Dilated cardiomyopathy 1E|Congenital long QT syndrome|Primary dilated cardiomyopathy|Brugada syndrome|Long QT syndrome 3|8 conditions
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.