RGD:405167807 Rat Genome Database

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Variant: RGD:405167807 -  Homo sapiens

RGD ID: 405167807
ClinVar ID: CV2900908
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CNGB3  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 87,656,916
GRCh38 8 86,644,688
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.991-2A>G
NG_016980.1:g.103988A>G
NC_000008.11:g.86644688T>C
NC_000008.10:g.87656916T>C
 11/01/2023 splice acceptor variant likely pathogenic none provided

Variant Details
Variant Samples
Additional References at PubMed
PMID:16199547   PMID:28492532   PMID:28795510  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003562828 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CNGB3 CLINVAR
OMIM 605080 CLINVAR