Variant (rsID / SNP)
rs121918282
rs121918282 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN3B. Location: chromosome 11, position 123,524,481. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
SCN3BConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:123524481
- Cytoband
- 11q24.1
- HGVS
- NM_001040151.2(SCN3B):c.29T>C (p.Leu10Pro)
- Allele change
- Missense_L10P
Associated conditions / phenotypes
Brugada syndrome 7|Atrial fibrillation, familial, 16|Brugada syndrome|Cardiovascular phenotype
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
