RGD:15127441 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:15127441 -  Homo sapiens

RGD ID: 15127441
RS ID: rs201488027
ClinVar ID: CV685469
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CFAP298  CFAP298-TCP10L  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 33,976,603
GRCh38 21 32,604,293
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001350335.2:c.376-10C>T
NM_001350336.2:c.376-10C>T
NM_001350337.2:c.376-10C>T
NM_001350338.2:c.376-10C>T
More... 		07/12/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CFAP298-TCP10L
Accession:NM_001350338
Location:INTRON

Gene Symbol:CFAP298
Accession:NM_001350334
Location:INTRON

Gene Symbol:CFAP298
Accession:NM_021254
Location:INTRON

Gene Symbol:CFAP298
Accession:NM_001350337
Location:INTRON

Gene Symbol:CFAP298
Accession:NM_001350336
Location:INTRON

Gene Symbol:CFAP298
Accession:NM_001350335
Location:INTRON

Gene Symbol:CFAP298-TCP10L
Accession:NR_146639
Location:INTRON;NON-CODING

Gene Symbol:CFAP298-TCP10L
Accession:NR_146638
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000862918 CLINVAR
dbSNP (RS) rs201488027 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CFAP298 CLINVAR
  CFAP298-TCP10L CLINVAR
OMIM 615494 CLINVAR