LRG_369:g.96482A>T NG_012798.1:g.96482A>T NC_000002.12:g.166284506T>A NC_000002.11:g.167141016T>A
LRG_369p1:p.Asn641Tyr NP_002968.1:p.Asn641Tyr Q15858:p.Asn641Tyr NM_001365536.1:c.1921A>T NP_001352465.1:p.Asn641Tyr LRG_369t1:c.1921A>T NP_002968.2:p.Asn641Tyr p.(Asn641Tyr) NM_002977.4:c.1921A>T NM_002977.2:c.1921A>T NM_002977.3:c.1921A>T NP_002968.1:p.Asn641Tyr More...
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07/10/2020 |
intron|intron variant|missense|missense variant |
pathogenic|benign|uncertain significance|not provided |
childhood |
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; PAIN, SUBMANDIBULAR, OCULAR, AND RECTAL, WITH FLUSHING; Paroxysmal extreme pain disorder; RECTAL PAIN, FAMILIAL; SCN9A-Related Inherited Erythromelalgia |