ClinVar
|
Risk
|
rs182650126(C;C) |
Alt
|
rs182650126(C;C) |
Reference
|
Rs182650126(T;T) |
Significance |
Other |
Disease |
Small fiber neuropathy not specified Inherited Erythromelalgia Paroxysmal extreme pain disorder Familial Febrile Seizures Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus Congenital Indifference to Pain not provided Generalized epilepsy with febrile seizures plus Hereditary sensory and autonomic neuropathy type IIA |
Variation | info |
---|
Gene |
LOC101929680 SCN9A |
CLNDBN |
Small fiber neuropathy not specified Inherited Erythromelalgia Paroxysmal extreme pain disorder Familial Febrile Seizures Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus Congenital Indifference to Pain not provided Generalized epilepsy with febrile seizures plus, type 7 Hereditary sensory and autonomic neuropathy type IIA |
Reversed |
0 |
HGVS |
NC_000002.11:g.167136962T>C |
CLNSRC |
HGMD OMIM Allelic Variant |
CLNACC |
RCV000144932.4, RCV000218739.4, RCV000281545.1, RCV000284837.1, RCV000324778.1, RCV000340033.1, RCV000379271.1, RCV000398464.1, RCV000416064.1, RCV000467712.1, |