RGD:152174443 Rat Genome Database

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Variant: RGD:152174443 -  Homo sapiens

RGD ID: 152174443
RS ID: rs528876785
ClinVar ID: CV1567126
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SCN1A  SCN1A-AS1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 166,864,117
GRCh38 2 166,007,607
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.1560+2112T>C
NM_001353960.2:c.3915+2112T>C
NM_001165964.3:c.3918+2112T>C
NM_001353957.2:c.3918+2112T>C
More... 		10/24/2021 intron variant likely benign 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_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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002163160 CLINVAR
dbSNP (RS) rs528876785 CLINVAR
MedGen C0393706 CLINVAR
NCBI Gene SCN1A CLINVAR
  SCN1A-AS1 CLINVAR
OMIM 182389 CLINVAR
SNOMED CT 230429005 CLINVAR