RGD:38481266 Rat Genome Database

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Variant: RGD:38481266 -  Homo sapiens

RGD ID: 38481266
RS ID: rs1689986058
ClinVar ID: CV959588
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SCN1A  SCN1A-AS1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 166,852,522
GRCh38 2 165,996,012
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001353961.2:c.2139+1G>A
NM_001353960.2:c.4494+1G>A
NM_001165964.3:c.4497+1G>A
NM_001353957.2:c.4497+1G>A
More... 		12/13/2021 splice donor variant pathogenic 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_001202435
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001165964
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_006920
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001165963
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353949
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353958
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353950
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353955
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353957
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353951
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353948
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353960
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353954
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353952
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353961
Location:INTRON

Gene Symbol:SCN1A
Accession:XM_047445392
Location:INTRON

Gene Symbol:SCN1A
Accession:XM_047445393
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:16199547   PMID:17347258   PMID:18930999   PMID:23195492   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001235040 CLINVAR
  RCV002246223 CLINVAR
  RCV002290651 CLINVAR
dbSNP (RS) rs1689986058 CLINVAR
MedGen C0393706 CLINVAR
  C0751122 CLINVAR
  C1858673 CLINVAR
NCBI Gene SCN1A CLINVAR
  SCN1A-AS1 CLINVAR
OMIM 182389 CLINVAR
  604403 CLINVAR
  607208 CLINVAR
SNOMED CT 230429005 CLINVAR
  230437002 CLINVAR