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, |