Variant (rsID / SNP)
rs6746030
rs6746030 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN9A. Location: chromosome 2, position 167,099,158. Clinical significance in the table: Benign.
Reference-table entries
SCN9ABenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:167099158
- Cytoband
- 2q24.3
- HGVS
- NM_001365536.1(SCN9A):c.3481= (p.Trp1161=)
- Allele change
- Silent
Associated conditions / phenotypes
Primary erythromelalgia|Generalized epilepsy with febrile seizures plus, type 7|Neuropathy, hereditary sensory and autonomic, type 2A
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.