RGD:12897534 Rat Genome Database

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Variant: RGD:12897534 -  Homo sapiens

RGD ID: 12897534
RS ID: rs370865394
ClinVar ID: CV391615
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SCN3A  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 165,970,489
GRCh38 2 165,113,979
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_042289.1:g.95110G>T
NC_000002.12:g.165113979C>A
NC_000002.11:g.165970489C>A
NM_001081677.2:c.3368-9G>T
More... 		12/13/2018 intron variant likely benign AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:SCN3A
Accession:XM_017004664
Location:INTRON

Gene Symbol:SCN3A
Accession:XM_047445394
Location:INTRON

Gene Symbol:SCN3A
Accession:NM_001081676
Location:INTRON

Gene Symbol:SCN3A
Accession:XM_017004660
Location:INTRON

Gene Symbol:SCN3A
Accession:XM_017004666
Location:INTRON

Gene Symbol:SCN3A
Accession:NM_001081677
Location:INTRON

Gene Symbol:SCN3A
Accession:XM_011511613
Location:INTRON

Gene Symbol:SCN3A
Accession:XM_011511610
Location:INTRON

Gene Symbol:SCN3A
Accession:XM_017004662
Location:INTRON

Gene Symbol:SCN3A
Accession:NM_006922
Location:INTRON

Gene Symbol:SCN3A
Accession:XM_017004661
Location:INTRON

Gene Symbol:SCN3A
Accession:XM_047445395
Location:INTRON

Gene Symbol:SCN3A
Accession:XM_017004665
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000463849 CLINVAR
  RCV000859245 CLINVAR
dbSNP (RS) rs370865394 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene SCN3A CLINVAR
OMIM 182391 CLINVAR