RGD:11577533 Rat Genome Database

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Variant: RGD:11577533 -  Homo sapiens

RGD ID: 11577533
RS ID: rs201979079
ClinVar ID: CV283307
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SCN1A-AS1  SCN9A  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 167,108,261
GRCh38 2 166,251,751
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NM_001365536.1:c.3472+14T>C
LRG_369t1:c.3439+14T>C
NM_002977.3:c.3439+14T>C
LRG_369:g.129237T>C
More... 		01/13/2018 intron variant benign|likely benign infancy 1-9 / 100 000|<1 / 1 000 000 ACROOSTEOLYSIS, GIACCAI TYPE; ACROOSTEOLYSIS, NEUROGENIC; 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; PAIN, SUBMANDIBULAR, OCULAR, AND RECTAL, WITH FLUSHING; RECTAL PAIN, FAMILIAL; SCN9A-Related Inherited Erythromelalgia

Variant Details
Variant Transcripts
Gene Symbol:SCN9A
Accession:NM_002977
Location:INTRON

Gene Symbol:SCN9A
Accession:XM_011511618
Location:INTRON

Gene Symbol:SCN9A
Accession:NM_001365536
Location:INTRON

Gene Symbol:SCN9A
Accession:XM_011511617
Location:INTRON

Gene Symbol:SCN9A
Accession:XM_011511616
Location:INTRON

Gene Symbol:SCN9A
Accession:XM_017004669
Location:INTRON

Gene Symbol:SCN9A
Accession:XM_011511619
Location:INTRON

Gene Symbol:SCN9A
Accession:XR_001738886
Location:INTRON;NON-CODING

Gene Symbol:SCN1A-AS1
Accession:NR_110260
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000277664 CLINVAR
  RCV000319396 CLINVAR
  RCV000354906 CLINVAR
  RCV000376405 CLINVAR
  RCV002057584 CLINVAR
dbSNP (RS) rs201979079 CLINVAR
MedGen C0014805 CLINVAR
  C1833661 CLINVAR
  C1855739 CLINVAR
  C2752089 CLINVAR
  C3276706 CLINVAR
NCBI Gene 101929680 CLINVAR
  SCN9A CLINVAR
OMIM 133020 CLINVAR
  167400 CLINVAR
  201300 CLINVAR
  243000 CLINVAR
  603415 CLINVAR
  613863 CLINVAR
SNOMED CT 403390002 CLINVAR