RGD:152036834 Rat Genome Database

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Variant: RGD:152036834 -  Homo sapiens

RGD ID: 152036834
RS ID: rs1358225188
ClinVar ID: CV1532093
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CACNA2D2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 50,412,160
GRCh38 3 50,374,729
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001291101.1:c.1777+8G>A
NM_001005505.3:c.1984+8G>A
NM_001174051.3:c.1984+8G>A
NM_006030.4:c.1984+8G>A
More... 		05/20/2021 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:CACNA2D2
Accession:NM_001005505
Location:INTRON

Gene Symbol:CACNA2D2
Accession:NM_006030
Location:INTRON

Gene Symbol:CACNA2D2
Accession:NM_001174051
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:CACNA2D2
Accession:NM_001291101
Location:INTRON

Gene Symbol:CACNA2D2
Accession:XM_011534243
Location:INTRON

Gene Symbol:CACNA2D2
Accession:NM_001410768
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002125474 CLINVAR
dbSNP (RS) rs1358225188 CLINVAR
MedGen C0393706 CLINVAR
NCBI Gene CACNA2D2 CLINVAR
OMIM 607082 CLINVAR
SNOMED CT 230429005 CLINVAR