LRG_369:g.142768C>A NG_012798.1:g.142768C>A NC_000002.12:g.166238220G>T NC_000002.11:g.167094730G>T
LRG_369p1:p.Ile1214= NP_002968.1:p.Ile1214= LRG_369t1:c.3642C>A NM_002977.4:c.3642C>A NM_001365536.1:c.3675C>A NP_001352465.1:p.Ile1225= NM_002977.2:c.3642C>A NM_002977.3:c.3642C>A NP_002968.1:p.Ile1214= NP_002968.2:p.Ile1214= More...
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12/01/2020 |
intron|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 |