RGD:11584800 Rat Genome Database

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Variant: RGD:11584800 -  Homo sapiens

RGD ID: 11584800
RS ID: rs746164130
ClinVar ID: CV284785
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SCN1A  SCN1A-AS1  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 166,847,295
GRCh38 2 165,990,785
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001165964.3:c.*460A>C
NM_001165963.1:c.*460A>C
LRG_8:g.87855A>C
NG_011906.1:g.87855A>C
More... 		06/14/2016 3 prime utr variant uncertain significance GEFS+, TYPE 2; Seizure disorder; Seizure Disorders
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Seizure  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:SCN1A
Accession:NM_006920
Location:3UTRS;EXON

Gene Symbol:SCN1A
Accession:NM_001202435
Location:3UTRS;EXON

Gene Symbol:SCN1A
Accession:NM_001165963
Location:3UTRS;EXON

Gene Symbol:SCN1A
Accession:NM_001353960
Location:3UTRS;EXON

Gene Symbol:SCN1A
Accession:NM_001353954
Location:3UTRS;EXON

Gene Symbol:SCN1A
Accession:NM_001353949
Location:3UTRS;EXON

Gene Symbol:SCN1A
Accession:NM_001353950
Location:3UTRS;EXON

Gene Symbol:SCN1A
Accession:NM_001353955
Location:3UTRS;EXON

Gene Symbol:SCN1A
Accession:NM_001353957
Location:3UTRS;EXON

Gene Symbol:SCN1A
Accession:NM_001353948
Location:3UTRS;EXON

Gene Symbol:SCN1A
Accession:NM_001353961
Location:3UTRS;EXON

Gene Symbol:SCN1A
Accession:NM_001353951
Location:3UTRS;EXON

Gene Symbol:SCN1A
Accession:XM_047445392
Location:3UTRS;EXON

Gene Symbol:SCN1A
Accession:NM_001165964
Location:3UTRS;EXON

Gene Symbol:SCN1A
Accession:NM_001353958
Location:3UTRS;EXON

Gene Symbol:SCN1A
Accession:NM_001353952
Location:3UTRS;EXON

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

Gene Symbol:SCN1A
Accession:XM_047445393
Location:INTRON

Gene Symbol:SCN1A-AS1
Accession:NR_110598
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000276619 CLINVAR
  RCV000334058 CLINVAR
  RCV001129371 CLINVAR
dbSNP (RS) rs746164130 CLINVAR
MedGen C0014544 CLINVAR
  C1858673 CLINVAR
  C1864987 CLINVAR
NCBI Gene 102724058 CLINVAR
  SCN1A CLINVAR
OMIM 182389 CLINVAR
  604403 CLINVAR
  609634 CLINVAR
SNOMED CT 84757009 CLINVAR