RGD:11592385 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:11592385 -  Homo sapiens

RGD ID: 11592385
RS ID: rs10902
ClinVar ID: CV280371
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FLVCR1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 213,071,600
GRCh38 1 212,898,258
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_028131.1:g.45004G>A
NC_000001.11:g.212898258G>A
NC_000001.10:g.213071600G>A
NM_014053.4:c.*2968G>A
More... 		06/14/2016 3 prime utr variant benign childhood <1 / 1 000 000 Posterior column ataxia with retinitis pigmentosa
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FLVCR1
Accession:NM_014053
Location:3UTRS;EXON

Gene Symbol:FLVCR1
Accession:XR_247024
Location:EXON;NON-CODING

Gene Symbol:FLVCR1
Accession:XR_007059232
Location:EXON;NON-CODING

Gene Symbol:FLVCR1
Accession:XM_011509447
Location:INTRON

Gene Symbol:FLVCR1
Accession:XM_011509448
Location:INTRON

Gene Symbol:FLVCR1
Accession:XR_921769
Location:INTRON;NON-CODING

Gene Symbol:FLVCR1
Accession:XR_426771
Location:INTRON;NON-CODING

Gene Symbol:FLVCR1
Accession:XR_426772
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000338233 CLINVAR
dbSNP (RS) rs10902 CLINVAR
MedGen C1836916 CLINVAR
NCBI Gene FLVCR1 CLINVAR
OMIM 609033 CLINVAR
  609144 CLINVAR