RGD:10054641 Rat Genome Database

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Variant: RGD:10054641 -  Homo sapiens

RGD ID: 10054641
RS ID: rs794726744
ClinVar ID: CV187770
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SCN1A  SCN1A-AS1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 166,870,253
GRCh38 2 166,013,743
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_8:g.64897G>A
NG_011906.1:g.64897G>A
NC_000002.12:g.166013743C>T
NM_001353960.2:c.3618+1G>A
More... 		03/04/2020 intron variant|splice donor variant pathogenic neonatal/infancy 1-9 / 100 000 Developmental and epileptic encephalopathy; DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6A; Dravet syndrome; Early infantile epileptic encephalopathy; Epilepsy, Myoclonic, Infantile, Severe; Epileptic encephalopathy, early infantile, 6 (Dravet syndrome); GEFS+, TYPE 2; Ohtahara syndrome

Variant Details
Variant Transcripts
Gene Symbol:SCN1A
Accession:NM_001165964
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353951
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353955
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353957
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001202435
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_006920
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353952
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001165963
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353960
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353954
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353958
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353949
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353948
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353961
Location:INTRON

Gene Symbol:SCN1A
Accession:XM_047445393
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353950
Location:INTRON

Gene Symbol:SCN1A
Accession:XM_047445392
Location:INTRON

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

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

Variant Samples
Additional References at PubMed
PMID:14504318   PMID:16199547   PMID:17347258   PMID:18930999   PMID:23808377   PMID:25741868   PMID:26096185   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000180854 CLINVAR
  RCV001385514 CLINVAR
  RCV001727612 CLINVAR
dbSNP (RS) rs794726744 CLINVAR
MedGen C0393706 CLINVAR
  C0751122 CLINVAR
  C1858673 CLINVAR
NCBI Gene 102724058 CLINVAR
  SCN1A CLINVAR
OMIM 182389 CLINVAR
  604403 CLINVAR
  607208 CLINVAR
SNOMED CT 230429005 CLINVAR
  230437002 CLINVAR