RGD:11585486 Rat Genome Database

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Variant: RGD:11585486 -  Homo sapiens

RGD ID: 11585486
RS ID: rs141521157
ClinVar ID: CV282604
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SCN9A  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 167,232,450
GRCh38 2 166,375,940
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
LRG_369t1:c.-294T>C
LRG_369:g.5048T>C
NG_012798.1:g.5048T>C
NC_000002.12:g.166375940A>G
More... 		01/13/2018 5 prime utr variant benign|likely benign infancy 1-9 / 100 000|<1 / 1 000 000 ASYMBOLIA FOR PAIN; CONGENITAL ANALGESIA, AUTOSOMAL RECESSIVE; Erythermalgia, primary; Indifference to pain, congenital, autosomal recessive; Insensitivity to pain, channelopathy-associated; PAIN, SUBMANDIBULAR, OCULAR, AND RECTAL, WITH FLUSHING; RECTAL PAIN, FAMILIAL; SCN9A-Related Inherited Erythromelalgia

Variant Details
Variant Transcripts
Gene Symbol:SCN9A
Accession:XM_011511618
Location:5UTRS;EXON

Gene Symbol:SCN9A
Accession:XM_011511619
Location:5UTRS;EXON

Gene Symbol:SCN9A
Accession:XM_011511616
Location:5UTRS;EXON

Gene Symbol:SCN9A
Accession:XM_011511617
Location:5UTRS;EXON

Gene Symbol:SCN9A
Accession:NM_001365536
Location:5UTRS;EXON

Gene Symbol:SCN9A
Accession:NM_002977
Location:5UTRS;EXON

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

Gene Symbol:SCN9A
Accession:XM_017004669
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000281178 CLINVAR
  RCV000317620 CLINVAR
  RCV000341898 CLINVAR
  RCV000375745 CLINVAR
dbSNP (RS) rs141521157 CLINVAR
MedGen C0014805 CLINVAR
  C1833661 CLINVAR
  C1855739 CLINVAR
  C3276706 CLINVAR
NCBI Gene SCN9A CLINVAR
OMIM 133020 CLINVAR
  167400 CLINVAR
  243000 CLINVAR
  603415 CLINVAR
SNOMED CT 403390002 CLINVAR