RGD:10054734 Rat Genome Database

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Variant: RGD:10054734 -  Homo sapiens

RGD ID: 10054734
RS ID: rs794726827
ClinVar ID: CV187867
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SCN1A  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 166,911,147
GRCh38 2 166,054,637
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.24003G>T
NG_011906.1:g.24003G>T
NC_000002.12:g.166054637C>A
NC_000002.11:g.166911147C>A
More... 		06/23/2021 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); Ohtahara syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SCN1A
Accession:NM_001353961
Location:5UTRS;INTRON

Gene Symbol:SCN1A
Accession:NM_001353949
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353951
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001202435
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353952
Location:INTRON

Gene Symbol:SCN1A
Accession:XM_047445393
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_006920
Location:INTRON

Gene Symbol:SCN1A
Accession:XM_047445392
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353958
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353957
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353954
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353948
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001165963
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001165964
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353950
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353955
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353960
Location:INTRON

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

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000180953 CLINVAR
  RCV001850423 CLINVAR
dbSNP (RS) rs794726827 CLINVAR
MedGen C0393706 CLINVAR
  C0751122 CLINVAR
NCBI Gene SCN1A CLINVAR
OMIM 182389 CLINVAR
  607208 CLINVAR
SNOMED CT 230429005 CLINVAR
  230437002 CLINVAR