LRG_369:g.181169C>T NG_012798.1:g.181169C>T NC_000002.12:g.166199819G>A NC_000002.11:g.167056329G>A
LRG_369p1:p.Thr1596Ile NP_002968.1:p.Thr1596Ile NM_001365536.1:c.4820C>T LRG_369t1:c.4787C>T NM_002977.4:c.4787C>T NP_001352465.1:p.Thr1607Ile NM_002977.2:c.4787C>T NM_002977.3:c.4787C>T NP_002968.1:p.Thr1596Ile NP_002968.2:p.Thr1596Ile More...
|
10/14/2021 |
missense|missense variant|splice donor variant |
uncertain significance |
infancy |
<1 / 1 000 000 |
ACROOSTEOLYSIS, GIACCAI TYPE; ACROOSTEOLYSIS, NEUROGENIC; ASYMBOLIA FOR PAIN; Channelopathy-associated congenital insensitivity to pain, autosomal recessive; CONGENITAL ANALGESIA, AUTOSOMAL RECESSIVE; DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6A; Dravet syndrome; Epilepsy, Myoclonic, Infantile, Severe; Epileptic encephalopathy, early infantile, 6 (Dravet syndrome); Erythermalgia, primary; GEFS+, TYPE 7; Generalized epilepsy with febrile seizures plus, type 7; Hereditary sensory and autonomic neuropathy type IIA; HSAN IIA; Indifference to pain, congenital, autosomal recessive; Insensitivity to pain, channelopathy-associated; Neuropathy, hereditary sensory and autonomic, type 2A; NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE; NEUROPATHY, HEREDITARY SENSORY, TYPE IIA; none provided; PAIN, SUBMANDIBULAR, OCULAR, AND RECTAL, WITH FLUSHING; Paroxysmal extreme pain disorder; RECTAL PAIN, FAMILIAL; SCN9A-Related Inherited Erythromelalgia; Severe myoclonic epilepsy in infancy |