Variant (rsID / SNP)
rs199473072
rs199473072 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN5A. Location: chromosome 3, position 38,655,264. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
SCN5APathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:38655264
- Cytoband
- 3p22.2
- HGVS
- NM_000335.5(SCN5A):c.673C>T (p.Arg225Trp)
- Allele change
- Silent
Associated conditions / phenotypes
Congenital long QT syndrome|Cardiac conduction defect, nonspecific|Brugada syndrome|Long QT syndrome 3|Cardiovascular phenotype|Cardiac arrhythmia|See cases
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.