RGD:152167689 Rat Genome Database

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Variant: RGD:152167689 -  Homo sapiens

RGD ID: 152167689
RS ID: rs147089729
ClinVar ID: CV1611631
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CEP78  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 80,863,278
GRCh38 9 78,248,362
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001098802.3:c.957+7C>A
NM_001330691.3:c.957+7C>A
NM_001330693.3:c.957+7C>A
NM_001330694.2:c.957+7C>A
More... 		04/28/2021 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CEP78
Accession:NM_001349838
Location:INTRON

Gene Symbol:CEP78
Accession:NM_001330694
Location:INTRON

Gene Symbol:CEP78
Accession:NM_001098802
Location:INTRON

Gene Symbol:CEP78
Accession:NM_001330693
Location:INTRON

Gene Symbol:CEP78
Accession:NM_001349840
Location:INTRON

Gene Symbol:CEP78
Accession:XM_047423955
Location:INTRON

Gene Symbol:CEP78
Accession:NM_001330691
Location:INTRON

Gene Symbol:CEP78
Accession:NM_001349839
Location:INTRON

Gene Symbol:CEP78
Accession:NM_032171
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002182235 CLINVAR
dbSNP (RS) rs147089729 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CEP78 CLINVAR
OMIM 617110 CLINVAR