RGD:12886870 Rat Genome Database

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Variant: RGD:12886870 -  Homo sapiens

RGD ID: 12886870
RS ID: rs1060502185
ClinVar ID: CV391440
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SCN1A  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 166,915,075
GRCh38 2 166,058,565
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011906.1:g.20075C>G
LRG_8:g.20075C>G
NC_000002.12:g.166058565G>C
NC_000002.11:g.166915075G>C
More... 		01/23/2017 intron variant likely pathogenic 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_001353961
Location:5UTRS;INTRON

Gene Symbol:SCN1A
Accession:NM_001202435
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353957
Location:INTRON

Gene Symbol:SCN1A
Accession:XM_047445393
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353951
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353960
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001165963
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353952
Location:INTRON

Gene Symbol:SCN1A
Accession:XM_047445392
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001165964
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353948
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353958
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_006920
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353949
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353955
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353954
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353950
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000468024 CLINVAR
dbSNP (RS) rs1060502185 CLINVAR
MedGen C0393706 CLINVAR
NCBI Gene SCN1A CLINVAR
OMIM 182389 CLINVAR
SNOMED CT 230429005 CLINVAR