Variant (rsID / SNP)
rs187453572
rs187453572 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN9A. Location: chromosome 2, position 167,142,893. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:167142893
- Cytoband
- 2q24.3
- HGVS
- NM_001365536.1(SCN9A):c.1555G>A (p.Glu519Lys)
- Allele change
- Silent
Associated conditions / phenotypes
Small fiber neuropathy|Channelopathy-associated congenital insensitivity to pain, autosomal recessive|Primary erythromelalgia|Paroxysmal extreme pain disorder|Neuropathy, hereditary sensory and autonomic, type 2A|Generalized epilepsy with febrile seizures plus, type 7|Seizure|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.