RGD:150513978 Rat Genome Database

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Variant: RGD:150513978 -  Homo sapiens

RGD ID: 150513978
RS ID: rs303828
ClinVar ID: CV1210797
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SCN8A  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 52,200,028
GRCh38 12 51,806,244
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1389t1:c.4796-38C>A
LRG_1389t2:c.4796-38C>A
NM_001177984.3:c.4673-38C>A
NM_001369788.1:c.4673-38C>A
More...
06/25/2018 intron variant benign CONVULSIONS, BENIGN FAMILIAL INFANTILE, 5; Early infantile epileptic encephalopathy 13; none provided; SCN8A-Related Epilepsy

Variant Details
Variant Transcripts
Gene Symbol:SCN8A
Accession:NM_001177984
Location:INTRON

Gene Symbol:SCN8A
Accession:NM_014191
Location:INTRON

Gene Symbol:SCN8A
Accession:NM_001330260
Location:INTRON

Gene Symbol:SCN8A
Accession:NM_001369788
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001598838 CLINVAR
  RCV001807432 CLINVAR
  RCV001807433 CLINVAR
  RCV001807434 CLINVAR
  RCV001807435 CLINVAR
dbSNP (RS) rs303828 CLINVAR
MedGen C3280415 CLINVAR
  C3281191 CLINVAR
  C3661900 CLINVAR
  C4310728 CLINVAR
  C5193056 CLINVAR
NCBI Gene SCN8A CLINVAR
OMIM 600702 CLINVAR
  614306 CLINVAR
  614558 CLINVAR
  617080 CLINVAR
  618364 CLINVAR