Variant (rsID / SNP)
rs45620037
rs45620037 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN5A. Location: chromosome 3, position 38,655,278. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
SCN5AConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:38655278
- Cytoband
- 3p22.2
- HGVS
- NM_000335.5(SCN5A):c.659C>T (p.Thr220Ile)
- Allele change
- Silent
Associated conditions / phenotypes
Sick sinus syndrome 1|Brugada syndrome|AV junctional rhythm|Dilated cardiomyopathy 1E|Cardiovascular phenotype|Primary familial dilated cardiomyopathy|Long QT syndrome 3|SCN5A-Related Disorders|Cardiac arrhythmia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.