RGD:13803626 Rat Genome Database

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Variant: RGD:13803626 -  Homo sapiens

RGD ID: 13803626
RS ID: rs1320493372
ClinVar ID: CV559596
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CACNA2D2  CYB561D2  CYB561D2  LOC127898564  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 50,405,070
GRCh38 3 50,367,639
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.2090+3A>G
NM_006030.4:c.2297+3A>G
NM_001174051.3:c.2318+3A>G
NM_006030.3:c.2297+3A>G
More... 		01/31/2018 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:
Accession:
Location:INTRON

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:
Accession:
Location:INTRON

Gene Symbol:CACNA2D2
Accession:XM_011534243
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:CYB561D2
Accession:NM_007022
Location:INTRON

Gene Symbol:CYB561D2
Accession:NM_001291284
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:CYB561D2
Accession:NM_001414707
Location:INTRON

Gene Symbol:CYB561D2
Accession:NM_001414714
Location:INTRON

Gene Symbol:CYB561D2
Accession:NM_001414711
Location:INTRON

Gene Symbol:CYB561D2
Accession:NM_001414708
Location:INTRON

Gene Symbol:CYB561D2
Accession:NM_001414706
Location:INTRON

Gene Symbol:CYB561D2
Accession:NM_001414705
Location:INTRON

Gene Symbol:CYB561D2
Accession:NM_001414712
Location:INTRON

Gene Symbol:CYB561D2
Accession:NM_001414713
Location:INTRON

Gene Symbol:CYB561D2
Accession:NM_001414709
Location:INTRON

Gene Symbol:CYB561D2
Accession:NM_001414710
Location:INTRON

Gene Symbol:CACNA2D2
Accession:NM_001410768
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON;NON-CODING

Gene Symbol:CYB561D2
Accession:NR_111913
Location:INTRON;NON-CODING

Gene Symbol:CYB561D2
Accession:NR_111914
Location:INTRON;NON-CODING

Gene Symbol:LOC127898564
Accession:NR_183066
Location:INTRON;NON-CODING

Gene Symbol:LOC127898564
Accession:NR_183067
Location:INTRON;NON-CODING

Gene Symbol:CYB561D2
Accession:NR_183064
Location:INTRON;NON-CODING

Gene Symbol:CYB561D2
Accession:NR_183062
Location:INTRON;NON-CODING

Gene Symbol:CYB561D2
Accession:NR_183061
Location:INTRON;NON-CODING

Gene Symbol:CYB561D2
Accession:NR_183065
Location:INTRON;NON-CODING

Gene Symbol:CYB561D2
Accession:NR_183063
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000685004 CLINVAR
dbSNP (RS) rs1320493372 CLINVAR
MedGen C0393706 CLINVAR
NCBI Gene CACNA2D2 CLINVAR
  CYB561D2 CLINVAR
  CYB561D2 CLINVAR
  LOC127898564 CLINVAR
OMIM 607068 CLINVAR
  607082 CLINVAR
SNOMED CT 230429005 CLINVAR