Variant (rsID / SNP)
rs192406412
rs192406412 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN9A. Location: chromosome 2, position 167,144,981. Clinical significance in the table: Uncertain significance.
Reference-table entries
SCN9AUncertain significance
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:167144981
- Cytoband
- 2q24.3
- HGVS
- NM_001365536.1(SCN9A):c.1280T>C (p.Leu427Ser)
- Allele change
- Silent
Associated conditions / phenotypes
Generalized epilepsy with febrile seizures plus, type 7|Neuropathy, hereditary sensory and autonomic, type 2A|6 conditions|Generalized epilepsy with febrile seizures plus, type 7
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.