RGD:127240795 Rat Genome Database

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Variant: RGD:127240795 -  Homo sapiens

RGD ID: 127240795
RS ID: rs1970107246
ClinVar ID: CV1079782
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CEP83  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 94,706,798
GRCh38 12 94,313,022
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001346458.2:c.1396-5T>C
NM_001346459.2:c.1396-5T>C
NC_000012.11:g.94706798A>G
NG_051825.1:g.151967T>C
More... 		08/20/2020 intron variant likely benign
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CEP83
Accession:NM_001042399
Location:INTRON

Gene Symbol:CEP83
Accession:NM_016122
Location:INTRON

Gene Symbol:CEP83
Accession:XM_011538424
Location:INTRON

Gene Symbol:CEP83
Accession:XM_017019386
Location:INTRON

Gene Symbol:CEP83
Accession:XM_017019385
Location:INTRON

Gene Symbol:CEP83
Accession:XM_017019389
Location:INTRON

Gene Symbol:CEP83
Accession:NM_001346457
Location:INTRON

Gene Symbol:CEP83
Accession:XM_024449007
Location:INTRON

Gene Symbol:CEP83
Accession:XM_024449005
Location:INTRON

Gene Symbol:CEP83
Accession:NM_001346459
Location:INTRON

Gene Symbol:CEP83
Accession:NM_001346458
Location:INTRON

Gene Symbol:CEP83
Accession:NM_001346462
Location:INTRON

Gene Symbol:CEP83
Accession:NM_001346461
Location:INTRON

Gene Symbol:CEP83
Accession:NM_001346460
Location:INTRON

Gene Symbol:CEP83
Accession:NM_001368040
Location:INTRON

Gene Symbol:CEP83
Accession:NM_001368038
Location:INTRON

Gene Symbol:CEP83
Accession:NM_001368039
Location:INTRON

Gene Symbol:CEP83
Accession:NM_001368037
Location:INTRON

Gene Symbol:CEP83
Accession:NM_001368041
Location:INTRON

Gene Symbol:CEP83
Accession:NM_001368042
Location:INTRON

Gene Symbol:CEP83
Accession:XM_047428923
Location:INTRON

Gene Symbol:CEP83
Accession:XM_047428922
Location:INTRON

Gene Symbol:CEP83
Accession:XM_047428926
Location:INTRON

Gene Symbol:CEP83
Accession:XM_047428925
Location:INTRON

Gene Symbol:CEP83
Accession:XM_047428927
Location:INTRON

Gene Symbol:CEP83
Accession:XM_047428928
Location:INTRON

Gene Symbol:CEP83
Accession:XM_047428929
Location:INTRON

Gene Symbol:CEP83
Accession:XM_047428930
Location:INTRON

Gene Symbol:CEP83
Accession:NR_144441
Location:INTRON;NON-CODING

Gene Symbol:CEP83
Accession:NR_160432
Location:INTRON;NON-CODING

Gene Symbol:CEP83
Accession:NR_160431
Location:INTRON;NON-CODING

Gene Symbol:CEP83
Accession:XR_007063082
Location:INTRON;NON-CODING

Gene Symbol:CEP83
Accession:XR_007063081
Location:INTRON;NON-CODING

Gene Symbol:CEP83
Accession:XR_007063083
Location:INTRON;NON-CODING

Gene Symbol:CEP83
Accession:XR_007063080
Location:INTRON;NON-CODING

Gene Symbol:CEP83
Accession:XR_007063084
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001397835 CLINVAR
dbSNP (RS) rs1970107246 CLINVAR
MedGen C3890591 CLINVAR
NCBI Gene CEP83 CLINVAR
OMIM 615847 CLINVAR
  615862 CLINVAR