RGD:404995445 Rat Genome Database

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Variant: RGD:404995445 -  Homo sapiens

RGD ID: 404995445
ClinVar ID: CV3088426
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SCN1A-AS1  SCN9A  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 167,099,186
GRCh38 2 166,242,676
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001365536.1:c.3473-20A>G
LRG_369:g.138312A>G
NG_012798.1:g.138312A>G
NC_000002.12:g.166242676T>C
More... 		07/09/2023 intron variant likely benign 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
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SCN9A
Accession:NM_001365536
Location:INTRON

Gene Symbol:SCN9A
Accession:XM_011511618
Location:INTRON

Gene Symbol:SCN9A
Accession:XM_017004669
Location:INTRON

Gene Symbol:SCN9A
Accession:XM_011511619
Location:INTRON

Gene Symbol:SCN9A
Accession:XM_011511617
Location:INTRON

Gene Symbol:SCN9A
Accession:XM_011511616
Location:INTRON

Gene Symbol:SCN9A
Accession:NM_002977
Location:INTRON

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

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003793203 CLINVAR
MedGen C2752089 CLINVAR
NCBI Gene SCN1A-AS1 CLINVAR
  SCN9A CLINVAR
OMIM 201300 CLINVAR
  603415 CLINVAR
  613863 CLINVAR