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 Behavioral & Substance Use Disorder 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)
Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)

8 records found for search term Enoph1
Refine Term:
Assembly:
    Chr  
Sort By:
           Export CSV TAB Print

RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
15181718CV764630single nucleotide variantNM_021204.5(ENOPH1):c.330C>T (p.Leu110=)not provided [RCV000930193]likely benign48245118682451186Humanname
156349365CV2309439single nucleotide variantNM_021204.5(ENOPH1):c.264G>T (p.Gln88His)not specified [RCV004165580]uncertain significance48245112082451120Humanname
156260202CV2322283single nucleotide variantNM_021204.5(ENOPH1):c.206T>G (p.Leu69Arg)not specified [RCV004176050]uncertain significance48245106282451062Humanname
597747305CV3664551single nucleotide variantNM_021204.5(ENOPH1):c.277G>A (p.Val93Met)not specified [RCV004922901]uncertain significance48245113382451133Humanname
598269576CV3954284single nucleotide variantNM_021204.5(ENOPH1):c.226C>T (p.Pro76Ser)not specified [RCV005327359]uncertain significance48245108282451082Humanname
155999420CV2257637single nucleotide variantNM_021204.5(ENOPH1):c.341A>G (p.Gln114Arg)not specified [RCV004127736]uncertain significance48245119782451197Humanname
156268743CV2305799single nucleotide variantNM_021204.5(ENOPH1):c.781A>G (p.Thr261Ala)not specified [RCV004167604]likely benign48246011582460115Humanname
329389314CV2448890single nucleotide variantNM_021204.5(ENOPH1):c.376C>T (p.Arg126Cys)not specified [RCV004261566]uncertain significance48245123282451232Humanname