RGD:156385470 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:156385470 -  Homo sapiens

RGD ID: 156385470
ClinVar ID: CV2125472
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PROM1  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 4 15,995,593
GRCh38 4 15,993,970
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001371406.1:c.1740+17A>T
NM_001371407.1:c.1740+17A>T
NM_001371408.1:c.1740+17A>T
NM_001145849.2:c.1767+17A>T
More... 		10/09/2022 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:PROM1
Accession:XM_011513900
Location:INTRON

Gene Symbol:PROM1
Accession:XM_011513903
Location:INTRON

Gene Symbol:PROM1
Accession:XM_047416376
Location:INTRON

Gene Symbol:PROM1
Accession:XM_047416370
Location:INTRON

Gene Symbol:PROM1
Accession:NM_001145852
Location:INTRON

Gene Symbol:PROM1
Accession:XM_047416377
Location:INTRON

Gene Symbol:PROM1
Accession:NM_001371408
Location:INTRON

Gene Symbol:PROM1
Accession:XM_047416375
Location:INTRON

Gene Symbol:PROM1
Accession:NM_001145850
Location:INTRON

Gene Symbol:PROM1
Accession:XM_006713974
Location:INTRON

Gene Symbol:PROM1
Accession:XM_011513897
Location:INTRON

Gene Symbol:PROM1
Accession:XM_047416374
Location:INTRON

Gene Symbol:PROM1
Accession:XM_047416379
Location:INTRON

Gene Symbol:PROM1
Accession:XM_011513902
Location:INTRON

Gene Symbol:PROM1
Accession:XM_047416378
Location:INTRON

Gene Symbol:PROM1
Accession:XM_017008800
Location:INTRON

Gene Symbol:PROM1
Accession:XM_047416372
Location:INTRON

Gene Symbol:PROM1
Accession:NM_001145851
Location:INTRON

Gene Symbol:PROM1
Accession:XM_005248196
Location:INTRON

Gene Symbol:PROM1
Accession:XM_011513893
Location:INTRON

Gene Symbol:PROM1
Accession:XM_011513894
Location:INTRON

Gene Symbol:PROM1
Accession:NM_001371407
Location:INTRON

Gene Symbol:PROM1
Accession:NM_001145848
Location:INTRON

Gene Symbol:PROM1
Accession:NM_001145847
Location:INTRON

Gene Symbol:PROM1
Accession:NM_006017
Location:INTRON

Gene Symbol:PROM1
Accession:XM_005248195
Location:INTRON

Gene Symbol:PROM1
Accession:XM_011513895
Location:INTRON

Gene Symbol:PROM1
Accession:NM_001371406
Location:INTRON

Gene Symbol:PROM1
Accession:NM_001145849
Location:INTRON

Gene Symbol:PROM1
Accession:XM_047416373
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002943452 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PROM1 CLINVAR
OMIM 604365 CLINVAR