Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs202055175

SCN9A

rs202055175 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN9A. Location: chromosome 2, position 167,137,020. 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
2:167137020
Cytoband
2q24.3
HGVS
NM_001365536.1(SCN9A):c.2190G>C (p.Trp730Cys)
Allele change
Silent

Associated conditions / phenotypes

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