Variant (rsID / SNP)
rs6599230
rs6599230 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN5A. Location: chromosome 3, position 38,674,712. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
SCN5ABenign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:38674712
- Cytoband
- 3p22.2
- HGVS
- NM_000335.5(SCN5A):c.87A>G (p.Ala29=)
- Allele change
- Synonymous_A29A
Associated conditions / phenotypes
Cardiovascular phenotype|Sick sinus syndrome 1|Congenital long QT syndrome|Brugada syndrome|Progressive familial heart block, type 1A|Ventricular fibrillation, paroxysmal familial, type 1|Dilated cardiomyopathy 1E|Long QT syndrome 3|Brugada syndrome 1|Cardiac arrhythmia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.