RGD:11350016 Rat Genome Database

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Variant: RGD:11350016 -  Homo sapiens

RGD ID: 11350016
RS ID: rs758151653
ClinVar ID: CV241559
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SCN8A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 52,200,058
GRCh38 12 51,806,274
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000012.12:g.51806274C>T
NC_000012.11:g.52200058C>T
LRG_1389t1:c.4796-8C>T
LRG_1389:g.221317C>T
More... 		08/26/2016 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:SCN8A
Accession:NM_014191
Location:INTRON

Gene Symbol:SCN8A
Accession:NM_001330260
Location:INTRON

Gene Symbol:SCN8A
Accession:NM_001369788
Location:INTRON

Gene Symbol:SCN8A
Accession:NM_001177984
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001424645 CLINVAR
dbSNP (RS) rs758151653 CLINVAR
MedGen C0393706 CLINVAR
NCBI Gene SCN8A CLINVAR
OMIM 600702 CLINVAR
SNOMED CT 230429005 CLINVAR