Variant (rsID / SNP)
rs71428908
rs71428908 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN9A. Location: chromosome 2, position 167,160,752. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
SCN9AConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:167160752
- Cytoband
- 2q24.3
- HGVS
- NM_001365536.1(SCN9A):c.684C>G (p.Ile228Met)
- Allele change
- Missense_I228M
Associated conditions / phenotypes
6 conditions|Neuropathy, hereditary sensory and autonomic, type 2A|Generalized epilepsy with febrile seizures plus, type 7|Primary erythromelalgia|Channelopathy-associated congenital insensitivity to pain, autosomal recessive|Paroxysmal extreme pain disorder|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.