RGD:405120143 Rat Genome Database

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Variant: RGD:405120143 -  Homo sapiens

RGD ID: 405120143
ClinVar ID: CV3036981
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CACNA2D2  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 50,415,432
GRCh38 3 50,378,001
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.1272+7C>G
NM_001005505.3:c.1479+7C>G
NM_001174051.3:c.1479+7C>G
NM_001410768.1:c.1479+7C>G
More... 		06/27/2023 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 Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003752881 CLINVAR
MedGen C0393706 CLINVAR
NCBI Gene CACNA2D2 CLINVAR
OMIM 607082 CLINVAR
SNOMED CT 230429005 CLINVAR