LRG_369:g.100453T>C NG_012798.1:g.100453T>C NC_000002.12:g.166280535A>G NC_000002.11:g.167137045A>G
LRG_369p1:p.Leu711Ser NP_002968.1:p.Leu711Ser LRG_369t1:c.2132T>C NM_002977.3:c.2132T>C NM_001365536.1:c.2165T>C NP_001352465.1:p.Leu722Ser NP_002968.1:p.Leu711Ser NP_002968.2:p.Leu711Ser NM_002977.4:c.2132T>C NM_002977.2:c.2132T>C More...
|
12/31/2019 |
missense variant |
benign|likely benign |
infancy |
1-9 / 100 000|<1 / 1 000 000 |
ACROOSTEOLYSIS, GIACCAI TYPE; ACROOSTEOLYSIS, NEUROGENIC; ASYMBOLIA FOR PAIN; Channelopathy-associated congenital insensitivity to pain, autosomal recessive; CONGENITAL ANALGESIA, AUTOSOMAL RECESSIVE; 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 |