RGD:151869246 Rat Genome Database

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Variant: RGD:151869246 -  Homo sapiens

RGD ID: 151869246
RS ID: rs2138838830
ClinVar ID: CV1510933
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SCN8A  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 52,145,383
GRCh38 12 51,751,599
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_014191.4:c.2370+6A>T
LRG_1389:g.166642A>T
NG_021180.3:g.166642A>T
NC_000012.12:g.51751599A>T
More... 		10/03/2021 intron variant uncertain significance 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_001177984
Location:INTRON

Gene Symbol:SCN8A
Accession:NM_001369788
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001998119 CLINVAR
dbSNP (RS) rs2138838830 CLINVAR
MedGen C0393706 CLINVAR
NCBI Gene SCN8A CLINVAR
OMIM 600702 CLINVAR
SNOMED CT 230429005 CLINVAR