Variant (rsID / SNP)
rs137854618
rs137854618 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN5A. Location: chromosome 3, position 38,607,917. Clinical significance in the table: Pathogenic.
Reference-table entries
SCN5APathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:38607917
- Cytoband
- 3p22.2
- HGVS
- NM_000335.5(SCN5A):c.3820G>A (p.Asp1274Asn)
- Allele change
- Missense_D1221N
Associated conditions / phenotypes
Dilated cardiomyopathy 1E|Atrial fibrillation, familial, 10|Brugada syndrome|Atrial standstill 1, digenic|Cardiovascular phenotype|Long QT syndrome 3|Cardiac arrhythmia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.