RGD:13479951 Rat Genome Database

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Variant: RGD:13479951 -  Homo sapiens

RGD ID: 13479951
RS ID: rs1553522517
ClinVar ID: CV448826
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SCN1A  SCN1A-AS1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 166,854,686
GRCh38 2 165,998,176
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_8:g.80464G>A
NG_011906.1:g.80464G>A
NC_000002.11:g.166854686C>T
NM_001165963.1:c.4339-1G>A
More... 		01/27/2020 splice acceptor variant pathogenic Developmental and epileptic encephalopathy; Early infantile epileptic encephalopathy; Ohtahara syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SCN1A
Accession:NM_001353955
Location:INTRON

Gene Symbol:SCN1A
Accession:XM_047445392
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353958
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353951
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353957
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001165964
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353954
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001202435
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353948
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353961
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353950
Location:INTRON

Gene Symbol:SCN1A
Accession:XM_047445393
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_006920
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001165963
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353960
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353949
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353952
Location:INTRON

Gene Symbol:SCN1A
Accession:NR_148667
Location:INTRON;NON-CODING

Gene Symbol:SCN1A-AS1
Accession:NR_110598
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:12821740   PMID:16199547   PMID:17347258   PMID:18930999   PMID:28492532   PMID:29142202  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000550750 CLINVAR
dbSNP (RS) rs1553522517 CLINVAR
MedGen C0393706 CLINVAR
NCBI Gene 102724058 CLINVAR
  SCN1A CLINVAR
OMIM 182389 CLINVAR
SNOMED CT 230429005 CLINVAR