Variant (rsID / SNP)
rs16969925
rs16969925 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN1B. Location: chromosome 19, position 35,524,449. Clinical significance in the table: Pathogenic.
Reference-table entries
SCN1BPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:35524449
- Cytoband
- 19q13.11
- HGVS
- NM_001037.5(SCN1B):c.254G>A (p.Arg85His)
- Allele change
- Missense_R85H
Associated conditions / phenotypes
Atrial fibrillation, familial, 13|Generalized epilepsy with febrile seizures plus, type 1|Atrial fibrillation, familial, 13|Developmental and epileptic encephalopathy, 52|Brugada syndrome 5|Brugada syndrome 5
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.