RGD:10398046 Rat Genome Database

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Variant: RGD:10398046 -  Homo sapiens

RGD ID: 10398046
RS ID: rs796053014
ClinVar ID: CV201487
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SCN1A  SCN1A-AS1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 166,854,547
GRCh38 2 165,998,037
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
NM_001165964.3:c.4392+1A>G
NM_001353952.2:c.4443+1A>G
NM_006920.6:c.4443+1A>G
NM_001202435.3:c.4476+1A>G
More... 		08/27/2021 splice donor variant pathogenic|likely pathogenic infancy|neonatal 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); none provided; Ohtahara syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SCN1A
Accession:NM_001353958
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353950
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353954
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001202435
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001165963
Location:INTRON

Gene Symbol:SCN1A
Accession:XM_047445393
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353955
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353961
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353951
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_006920
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353949
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353957
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353948
Location:INTRON

Gene Symbol:SCN1A
Accession:XM_047445392
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001165964
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353960
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353952
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:9536098   PMID:17576681   PMID:21248271   PMID:23195492   PMID:26467025   PMID:28492532   PMID:29655203   PMID:33278787  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000188953 CLINVAR
  RCV000201073 CLINVAR
  RCV001852496 CLINVAR
dbSNP (RS) rs796053014 CLINVAR
MedGen C0393706 CLINVAR
  C0751122 CLINVAR
  C3661900 CLINVAR
NCBI Gene 102724058 CLINVAR
  SCN1A CLINVAR
OMIM 182389 CLINVAR
  607208 CLINVAR
SNOMED CT 230429005 CLINVAR
  230437002 CLINVAR