RGD:152176160 Rat Genome Database

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Variant: RGD:152176160 -  Homo sapiens

RGD ID: 152176160
RS ID: rs749517144
ClinVar ID: CV1628320
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SCN8A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 52,077,950
GRCh38 12 51,684,166
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1389t1:c.277-8C>T
LRG_1389t2:c.277-8C>T
NM_001177984.3:c.277-8C>T
NM_001330260.2:c.277-8C>T
More... 		12/01/2020 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_001369788
Location:INTRON

Gene Symbol:SCN8A
Accession:NM_001177984
Location:INTRON

Gene Symbol:SCN8A
Accession:NM_014191
Location:INTRON

Gene Symbol:SCN8A
Accession:NM_001330260
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002164301 CLINVAR
dbSNP (RS) rs749517144 CLINVAR
MedGen C0393706 CLINVAR
NCBI Gene SCN8A CLINVAR
OMIM 600702 CLINVAR
SNOMED CT 230429005 CLINVAR