Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs200682458

SCN9A

rs200682458 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN9A. Location: chromosome 2, position 167,142,984. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

SCN9AConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:167142984
Cytoband
2q24.3
HGVS
NM_001365536.1(SCN9A):c.1464C>T (p.Leu488=)
Allele change
Silent

Associated conditions / phenotypes

Primary erythromelalgia|Paroxysmal extreme pain disorder|Inherited Erythromelalgia|Channelopathy-associated congenital insensitivity to pain, autosomal recessive|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.