RGD:156069891 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:156069891 -  Homo sapiens

RGD ID: 156069891
ClinVar ID: CV1928074
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CR2  LOC126805994  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 207,643,458
GRCh38 1 207,470,113
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NG_013006.1:g.20814C>A
NG_082318.1:g.937C>A
NC_000001.11:g.207470113C>A
NC_000001.10:g.207643458C>A
More... 		07/21/2022 intron variant uncertain significance
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV1928074Humancommon variable immunodeficiency 7  IAGP 8554872ClinVar Annotator: match by term: Immunodeficiency, common variable, 7ClinVarPMID:28492532
Gene Symbol:CR2
Accession:NM_001006658
Location:INTRON

Gene Symbol:CR2
Accession:NM_001877
Location:INTRON

.
PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV002638567 CLINVAR
MedGen C3542922 CLINVAR
NCBI Gene CR2 CLINVAR
  LOC126805994 CLINVAR
OMIM 120650 CLINVAR
  614699 CLINVAR