RGD:12739040 Rat Genome Database

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Variant: RGD:12739040 -  Homo sapiens

RGD ID: 12739040
RS ID: rs200972952
ClinVar ID: CV360824
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SCN9A  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 167,163,461
GRCh38 2 166,306,951
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_369t1:c.377+5C>T
NM_002977.3:c.377+5C>T
LRG_369:g.74037C>T
NG_012798.1:g.74037C>T
More... 		09/30/2018 intron variant pathogenic|uncertain significance ACROOSTEOLYSIS, GIACCAI TYPE; ACROOSTEOLYSIS, NEUROGENIC; GEFS+, TYPE 7; Generalized epilepsy with febrile seizures plus, type 7; Hereditary sensory and autonomic neuropathy type IIA; HSAN IIA; NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE; NEUROPATHY, HEREDITARY SENSORY, TYPE IIA; none provided
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:SCN9A
Accession:XM_017004669
Location:INTRON

Gene Symbol:SCN9A
Accession:XM_011511618
Location:INTRON

Gene Symbol:SCN9A
Accession:XM_011511617
Location:INTRON

Gene Symbol:SCN9A
Accession:XM_011511619
Location:INTRON

Gene Symbol:SCN9A
Accession:NM_002977
Location:INTRON

Gene Symbol:SCN9A
Accession:XM_011511616
Location:INTRON

Gene Symbol:SCN9A
Accession:NM_001365536
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:25741868   PMID:28492532   PMID:28914264   PMID:30795902  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000415348 CLINVAR
  RCV000762064 CLINVAR
  RCV001366127 CLINVAR
dbSNP (RS) rs200972952 CLINVAR
MedGen C0344307 CLINVAR
  C2752089 CLINVAR
  C3661900 CLINVAR
NCBI Gene SCN9A CLINVAR
OMIM 201300 CLINVAR
  603415 CLINVAR
  613863 CLINVAR