RGD:405247476 Rat Genome Database

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Variant: RGD:405247476 -  Homo sapiens

RGD ID: 405247476
ClinVar ID: CV3043487
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CEP83  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 94,805,453
GRCh38 12 94,411,677
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.12+20T>C
NM_001346459.2:c.12+20T>C
NM_001346462.2:c.12+20T>C
NM_001368039.1:c.12+20T>C
More... 		11/24/2023 intron 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 RCV003746385 CLINVAR
MedGen C3890591 CLINVAR
NCBI Gene CEP83 CLINVAR
OMIM 615847 CLINVAR
  615862 CLINVAR