Variant (rsID / SNP)
rs267607028
rs267607028 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN1B. Location: chromosome 19, position 35,524,731. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
SCN1BConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:35524731
- Cytoband
- 19q13.11
- HGVS
- NM_001037.5(SCN1B):c.448+88G>A
- Allele change
- Nonsense_W179X
Associated conditions / phenotypes
Brugada syndrome 5
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.