RGD:11582992 Rat Genome Database

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Variant: RGD:11582992 -  Homo sapiens

RGD ID: 11582992
RS ID: rs16851751
ClinVar ID: CV282571
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SCN1A-AS1  SCN9A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 167,053,386
GRCh38 2 166,196,876
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.*1796C>T
LRG_369:g.184112C>T
NG_012798.1:g.184112C>T
NC_000002.12:g.166196876G>A
More... 		01/12/2018 3 prime utr variant 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
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SCN9A
Accession:NM_002977
Location:3UTRS;EXON

Gene Symbol:SCN9A
Accession:XM_011511619
Location:3UTRS;EXON

Gene Symbol:SCN9A
Accession:XM_017004669
Location:3UTRS;EXON

Gene Symbol:SCN9A
Accession:XM_011511616
Location:3UTRS;EXON

Gene Symbol:SCN9A
Accession:XM_011511617
Location:3UTRS;EXON

Gene Symbol:SCN9A
Accession:NM_001365536
Location:3UTRS;EXON

Gene Symbol:SCN9A
Accession:XM_011511618
Location:3UTRS;EXON

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000263670 CLINVAR
  RCV000266558 CLINVAR
  RCV000316954 CLINVAR
  RCV000318792 CLINVAR
dbSNP (RS) rs16851751 CLINVAR
MedGen C0014805 CLINVAR
  C1833661 CLINVAR
  C1855739 CLINVAR
  CN239438 CLINVAR
NCBI Gene 101929680 CLINVAR
  SCN9A CLINVAR
OMIM 133020 CLINVAR
  167400 CLINVAR
  243000 CLINVAR
  603415 CLINVAR
SNOMED CT 403390002 CLINVAR