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Variant (rsID / SNP)

rs12478318

SCN9A

rs12478318 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN9A. Location: chromosome 2, position 167,133,540. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SCN9ABenign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
2:167133540
Cytoband
2q24.3
HGVS
NM_001365536.1(SCN9A):c.2827A>C (p.Met943Leu)
Allele change
Silent

Associated conditions / phenotypes

Channelopathy-associated congenital insensitivity to pain, autosomal recessive|Generalized epilepsy with febrile seizures plus, type 7|Neuropathy, hereditary sensory and autonomic, type 2A|Neuropathy, hereditary sensory and autonomic, type 2A|Primary erythromelalgia|Paroxysmal extreme pain disorder

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.