RGD:405133813 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:405133813 -  Homo sapiens

RGD ID: 405133813
ClinVar ID: CV2959341
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CNGB3  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 87,656,926
GRCh38 8 86,644,698
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.991-12T>C
NG_016980.1:g.103978T>C
NC_000008.11:g.86644698A>G
NC_000008.10:g.87656926A>G
05/05/2023 intron variant likely benign none provided

Variant Details
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003668572 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CNGB3 CLINVAR
OMIM 605080 CLINVAR