RGD:405228523 Rat Genome Database

Send us a Message



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

Variant: RGD:405228523 -  Homo sapiens

RGD ID: 405228523
ClinVar ID: CV2894588
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RHO  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 129,247,878
GRCh38 3 129,529,035
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000539.3:c.302G>A
NG_009115.1:g.5397G>A
NG_100653.1:g.546G>A
NC_000003.12:g.129529035G>A
More...
04/29/2023 missense variant uncertain significance none provided

Variant Details
Variant Samples
Additional References at PubMed
PMID:26161267   PMID:28492532   PMID:28981474   PMID:30977563   PMID:33347869   PMID:35052368  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003555098 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene RHO CLINVAR
OMIM 180380 CLINVAR