Variant (rsID / SNP)
rs7626962
rs7626962 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN5A. Location: chromosome 3, position 38,620,907. Clinical significance in the table: Benign/Likely benign; risk factor.
Reference-table entries
- Clinical significance (as recorded)
- Benign/Likely benign; risk factor
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:38620907
- Cytoband
- 3p22.2
- HGVS
- NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr)
- Allele change
- Silent
Associated conditions / phenotypes
Long qt syndrome 3, acquired, susceptibility to|SUDDEN INFANT DEATH SYNDROME|Brugada syndrome|Dilated cardiomyopathy 1E|Progressive familial heart block, type 1A|Ventricular fibrillation, paroxysmal familial, type 1|Congenital long QT syndrome|Sick sinus syndrome 1|Cardiovascular phenotype|Long QT syndrome 3|Left ventricular noncompaction|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.