RGD:405250252 Rat Genome Database

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Variant: RGD:405250252 -  Homo sapiens

RGD ID: 405250252
ClinVar ID: CV3012510
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CEP83  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 94,702,634
GRCh38 12 94,308,858
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.1749A>G
NM_001346459.2:c.1749A>G
NM_001368039.1:c.1749A>G
NM_001368040.1:c.1749A>G
More... 		03/23/2023 non-coding transcript variant likely benign
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 RCV003747416 CLINVAR
MedGen C3890591 CLINVAR
NCBI Gene CEP83 CLINVAR
OMIM 615847 CLINVAR
  615862 CLINVAR