Variant (rsID / SNP)
rs587777556
rs587777556 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN3B. Location: chromosome 11, position 123,513,210. Clinical significance in the table: Uncertain significance.
Reference-table entries
SCN3BUncertain significance
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:123513210
- Cytoband
- 11q24.1
- HGVS
- NM_001040151.2(SCN3B):c.389C>T (p.Ala130Val)
- Allele change
- Missense_A130V
Associated conditions / phenotypes
Atrial fibrillation, familial, 16|Brugada syndrome 7
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
