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Variant (rsID / SNP)

rs200014315

SCN9A

rs200014315 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN9A. Location: chromosome 2, position 167,138,313. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SCN9AConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:167138313
Cytoband
2q24.3
HGVS
NM_001365536.1(SCN9A):c.1980G>A (p.Thr660=)
Allele change
Silent

Associated conditions / phenotypes

Paroxysmal extreme pain disorder|Primary erythromelalgia|Channelopathy-associated congenital insensitivity to pain, autosomal recessive|Small fiber neuropathy|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.