RGD:405012362 Rat Genome Database

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Variant: RGD:405012362 -  Homo sapiens

RGD ID: 405012362
ClinVar ID: CV2933803
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CNGB3  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 87,638,327
GRCh38 8 86,626,099
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_019098.5:c.1481-19T>C
NG_016980.1:g.122577T>C
NC_000008.11:g.86626099A>G
NC_000008.10:g.87638327A>G
 10/29/2023 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CNGB3
Accession:XM_011517138
Location:INTRON

Gene Symbol:CNGB3
Accession:NM_019098
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003576783 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CNGB3 CLINVAR
OMIM 605080 CLINVAR