LRG_369:g.103958A>C NG_012798.1:g.103958A>C NC_000002.12:g.166277030T>G NC_000002.11:g.167133540T>G
LRG_369p1:p.Met932Leu NM_001365536.1:c.2827A>C NP_001352465.1:p.Met943Leu NM_002977.3:c.2794A>C NP_002968.1:p.Met932Leu LRG_369t1:c.2794A>C NP_002968.1:p.Met932Leu NP_002968.2:p.Met932Leu NM_002977.2:c.2794A>C NM_002977.4:c.2794A>C More...
|
05/28/2019 |
intron|intron variant|missense|missense variant |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain risk allele|conflicting data from submitters |
infancy |
<1 / 1 000 000 |
ACROOSTEOLYSIS, GIACCAI TYPE; ACROOSTEOLYSIS, NEUROGENIC; AllHighlyPenetrant; ASYMBOLIA FOR PAIN; Autism spectrum disorders; 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 |