Variant (rsID / SNP)
rs121908920
rs121908920 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN9A. Location: chromosome 2, position 167,168,083. 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
- 2:167168083
- Cytoband
- 2q24.3
- HGVS
- NM_001365536.1(SCN9A):c.184A>G (p.Ile62Val)
- Allele change
- Missense_I62V
Associated conditions / phenotypes
Febrile seizures, familial, 3b|Generalized epilepsy with febrile seizures plus, type 7|Neuropathy, hereditary sensory and autonomic, type 2A|6 conditions
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
