RGD:12844568 Rat Genome Database

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Variant: RGD:12844568 -  Homo sapiens

RGD ID: 12844568
RS ID: rs367746278
ClinVar ID: CV373317
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SCN8A  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 52,095,001
GRCh38 12 51,701,217
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1389:g.116260T>A
NG_021180.3:g.116260T>A
NC_000012.12:g.51701217T>A
NC_000012.11:g.52095001T>A
More... 		02/27/2019 intron variant likely benign AllHighlyPenetrant; Developmental and epileptic encephalopathy; Early infantile epileptic encephalopathy; Ohtahara syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SCN8A
Accession:NM_001330260
Location:INTRON

Gene Symbol:SCN8A
Accession:NM_001369788
Location:INTRON

Gene Symbol:SCN8A
Accession:NM_001177984
Location:INTRON

Gene Symbol:SCN8A
Accession:NM_014191
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000438225 CLINVAR
  RCV000636578 CLINVAR
dbSNP (RS) rs367746278 CLINVAR
MedGen C0393706 CLINVAR
  CN169374 CLINVAR
NCBI Gene SCN8A CLINVAR
OMIM 600702 CLINVAR
SNOMED CT 230429005 CLINVAR