Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs149707354

SCN9A

rs149707354 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN9A. Location: chromosome 2, position 167,134,775. Clinical significance in the table: Benign/Likely benign.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

SCN9ABenign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
2:167134775
Cytoband
2q24.3
HGVS
NM_001365536.1(SCN9A):c.2392A>G (p.Met798Val)
Allele change
Silent

Associated conditions / phenotypes

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