RGD:11587063 Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

Variant: RGD:11587063 -  Homo sapiens

RGD ID: 11587063
RS ID: rs555995940
ClinVar ID: CV284927
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CUL3  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 225,336,832
GRCh38 2 224,472,115
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001257198.2:c.*2130A>G
NM_003590.5:c.*2130A>G
NM_003590.4:c.*2130A>G
NG_032169.1:g.118283A>G
More... 		07/01/2022 3 prime utr variant benign|likely benign|uncertain significance none provided; PHA I, AUTOSOMAL DOMINANT; Pseudohypoaldosteronism, Type I, Autosomal Dominant; Pseudohypoaldosteronism, Type I, Dominant
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CUL3
Accession:NM_003590
Location:3UTRS;EXON

Gene Symbol:CUL3
Accession:XM_047446024
Location:3UTRS;EXON

Gene Symbol:CUL3
Accession:XM_011511995
Location:3UTRS;EXON

Gene Symbol:CUL3
Accession:XM_011511996
Location:3UTRS;EXON

Gene Symbol:CUL3
Accession:NM_001257198
Location:3UTRS;EXON

Gene Symbol:CUL3
Accession:NM_001257197
Location:3UTRS;EXON

Gene Symbol:CUL3
Accession:XM_006712800
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000292532 CLINVAR
  RCV001143759 CLINVAR
  RCV002274987 CLINVAR
dbSNP (RS) rs555995940 CLINVAR
MedGen C1449842 CLINVAR
  C3469606 CLINVAR
  C3661900 CLINVAR
NCBI Gene CUL3 CLINVAR
OMIM 177735 CLINVAR
  603136 CLINVAR
  614496 CLINVAR