Variant (rsID / SNP)
rs587781157
rs587781157 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN5A. Location: chromosome 3, position 38,674,778. 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
- 3:38674778
- Cytoband
- 3p22.2
- HGVS
- NM_000335.5(SCN5A):c.21T>A (p.Pro7=)
- Allele change
- Synonymous_P7P
Associated conditions / phenotypes
Dilated Cardiomyopathy, Dominant|Long QT syndrome|Paroxysmal familial ventricular fibrillation|Congenital long QT syndrome|Brugada syndrome|Progressive familial heart block|Sick sinus syndrome|Cardiac arrhythmia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
