Variant (rsID / SNP)
rs199473335
rs199473335 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN5A. Location: chromosome 3, position 38,591,902. 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
- 3:38591902
- Cytoband
- 3p22.2
- HGVS
- NM_000335.5(SCN5A):c.5958C>A (p.Asn1986Lys)
- Allele change
- Missense_N1933K
Associated conditions / phenotypes
Atrial fibrillation, familial, 10|Atrial fibrillation|Brugada syndrome|Cardiac arrhythmia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
