RGD:11592925 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   new 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

Variant: RGD:11592925 -  Homo sapiens

RGD ID: 11592925
RS ID: rs201954533
ClinVar ID: CV325782
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: C1QTNF5  MFRP  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 119,217,272
GRCh38 11 119,346,562
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_012235.1:g.5112G>A
NC_000011.10:g.119346562C>T
NC_000011.9:g.119217272C>T
NM_015645.4:c.-2685G>A
More... 		01/12/2018 5 prime utr variant likely benign|uncertain significance infancy 1-9 / 100 000 Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen; RETINAL DEGENERATION, LATE-ONSET, AUTOSOMAL DOMINANT
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:C1QTNF5
Accession:NM_015645
Location:5UTRS;EXON

Gene Symbol:MFRP
Accession:NM_031433
Location:5UTRS;EXON

Gene Symbol:C1QTNF5
Accession:NM_001278431
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000343842 CLINVAR
  RCV000391941 CLINVAR
  RCV001104611 CLINVAR
dbSNP (RS) rs201954533 CLINVAR
MedGen C0035304 CLINVAR
  C1854065 CLINVAR
  C1970236 CLINVAR
NCBI Gene C1QTNF5 CLINVAR
  MFRP CLINVAR
OMIM 605670 CLINVAR
  606227 CLINVAR
  608752 CLINVAR
  611040 CLINVAR