Variant (rsID / SNP)
rs137854608
rs137854608 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN5A. Location: chromosome 3, position 38,651,267. Clinical significance in the table: Uncertain significance.
Reference-table entries
SCN5AUncertain significance
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:38651267
- Cytoband
- 3p22.2
- HGVS
- NM_000335.5(SCN5A):c.892G>A (p.Gly298Ser)
- Allele change
- Missense_G298S
Associated conditions / phenotypes
Progressive familial heart block, type 1A|Atrioventricular block|Migraine|Hemiplegia|Primary dilated cardiomyopathy|Brugada syndrome|Dilated cardiomyopathy 1E|Long QT syndrome 3|Ventricular fibrillation, paroxysmal familial, type 1|Sick sinus syndrome 1|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.
