LRG_369:g.129153G>T NG_012798.1:g.129153G>T NC_000002.12:g.166251835C>A NC_000002.11:g.167108345C>A
LRG_369p1:p.Leu1123Phe NP_002968.1:p.Leu1123Phe LRG_369t1:c.3369G>T NR_110260.1:n.792C>A NM_001365536.1:c.3402G>T NP_001352465.1:p.Leu1134Phe NP_002968.1:p.Leu1123Phe NM_002977.4:c.3369G>T NM_002977.2:c.3369G>T NM_002977.3:c.3369G>T NP_002968.2:p.Leu1123Phe More...
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02/11/2019 |
missense variant |
benign|likely benign|uncertain significance|not provided |
ACROOSTEOLYSIS, GIACCAI TYPE; ACROOSTEOLYSIS, NEUROGENIC; AllHighlyPenetrant; 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 |