NM_001365536.1:c.1266A>G LRG_369:g.92503A>G NG_012798.1:g.92503A>G NC_000002.12:g.166288485T>C
NC_000002.11:g.167144995T>C LRG_369p1:p.Glu422= NP_002968.1:p.Glu422= LRG_369t1:c.1266A>G NM_001365536.1:c.1266A>G NP_001352465.1:p.Glu422= NP_002968.1:p.Glu422= NM_002977.4:c.1266A>G NM_002977.2:c.1266A>G NM_002977.3:c.1266A>G NP_002968.2:p.Glu422= More...
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05/07/2018 |
intron variant|synonymous variant |
benign|likely benign|conflicting interpretations of pathogenicity |
infancy |
1-9 / 100 000|<1 / 1 000 000 |
ACROOSTEOLYSIS, GIACCAI TYPE; ACROOSTEOLYSIS, NEUROGENIC; AllHighlyPenetrant; ASYMBOLIA FOR PAIN; 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 RADICULAR, AUTOSOMAL RECESSIVE; NEUROPATHY, HEREDITARY SENSORY, TYPE IIA; none provided; PAIN, SUBMANDIBULAR, OCULAR, AND RECTAL, WITH FLUSHING; RECTAL PAIN, FAMILIAL; SCN9A-Related Inherited Erythromelalgia |