Variant (rsID / SNP)
rs267607030
rs267607030 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN9A. Location: chromosome 2, position 167,168,238. Clinical significance in the table: Likely benign.
Reference-table entries
SCN9ALikely benign
- Clinical significance (as recorded)
- Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:167168238
- Cytoband
- 2q24.3
- HGVS
- NM_001365536.1(SCN9A):c.29A>G (p.Gln10Arg)
- Allele change
- Missense_Q10R
Associated conditions / phenotypes
Primary erythromelalgia|Channelopathy-associated congenital insensitivity to pain, autosomal recessive|Inherited Erythromelalgia|Paroxysmal extreme pain disorder|Neuropathy, hereditary sensory and autonomic, type 2A|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.