RGD:11646267 Rat Genome Database

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Variant: RGD:11646267 -  Homo sapiens

RGD ID: 11646267
RS ID: rs886055043
ClinVar ID: CV284795
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SCN1A  SCN1A-AS1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 166,866,361
GRCh38 2 166,009,851
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_8:g.68789G>C
NG_011906.1:g.68789G>C
NC_000002.12:g.166009851C>G
NC_000002.11:g.166866361C>G
More... 		10/17/2023 intron variant likely benign|uncertain significance Developmental and epileptic encephalopathy; Early infantile epileptic encephalopathy; GEFS+, TYPE 2; Ohtahara syndrome; Seizure disorder; Seizure Disorders
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Seizure  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:SCN1A
Accession:NM_001165964
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353952
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353949
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353955
Location:INTRON

Gene Symbol:SCN1A
Accession:XM_047445392
Location:INTRON

Gene Symbol:SCN1A
Accession:XM_047445393
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001165963
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001202435
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353957
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_006920
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353950
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353948
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353954
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353951
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353960
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353958
Location:INTRON

Gene Symbol:SCN1A
Accession:NM_001353961
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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000270000 CLINVAR
  RCV000327373 CLINVAR
  RCV001133133 CLINVAR
  RCV003588616 CLINVAR
dbSNP (RS) rs886055043 CLINVAR
MedGen C0014544 CLINVAR
  C0393706 CLINVAR
  C1858673 CLINVAR
  C1864987 CLINVAR
NCBI Gene 102724058 CLINVAR
  SCN1A CLINVAR
OMIM 182389 CLINVAR
  604403 CLINVAR
  609634 CLINVAR
SNOMED CT 230429005 CLINVAR
  84757009 CLINVAR