| ClinVar
|
| Risk
|
rs187558439(A;A) rs187558439(T;T) |
| Alt
|
rs187558439(A;A) rs187558439(T;T) |
| Reference
|
Rs187558439(G;G) |
| Significance |
Pathogenic |
| Disease |
not provided Small fiber neuropathy Inherited Erythromelalgia Paroxysmal extreme pain disorder Familial Febrile Seizures Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus Congenital Indifference to Pain |
| Variation | info |
|---|
| Gene |
LOC101929680 SCN9A |
| CLNDBN |
not provided Small fiber neuropathy Inherited Erythromelalgia Paroxysmal extreme pain disorder Familial Febrile Seizures Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus Congenital Indifference to Pain |
| Reversed |
0 |
| HGVS |
NC_000002.11:g.167060878G>A; NC_000002.11:g.167060878G>T |
| CLNSRC |
|
| CLNACC |
RCV000236436.1, RCV000261220.1, RCV000283499.1, RCV000291970.1, RCV000322333.1, RCV000323359.1, RCV000380287.1, RCV000383965.1, |