Insensitivity to pain, congenital
OMIM:243000Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the nervous system
Mutations
| Gene Symbol | SCN9A |
|---|---|
| Reference transcript | NM_002977.3 |
| DNA Change | c.4795C>T |
| A.A. Change | p.Arg1599X |
| Exon/Intron | exon 27 |
| Mutation Type | substitution |
| Reference | Mansouri M, Chafai Elalaoui S, Ouled Amar Bencheikh B, El Alloussi M, Dion PA, Sefiani A, Rouleau GA.A novel nonsense mutation in SCN9A in a Moroccan child with congenital insensitivity to pain. Pediatr Neurol. 2014 Nov;51(5):741-4. |