RGD:11607319 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:11607319 -  Homo sapiens

RGD ID: 11607319
RS ID: rs10685655
ClinVar ID: CV305479
Genic Status: GENIC
Type: insertion (SO:0000667) 
Associated Genes: SEC63  
Reference Nucleotide: -
Variant Nucleotide: GTC
Position
Assembly Chr Position
GRCh37 6 108,189,333
GRCh38 6 107,868,129
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008270.1:g.95149_95150insGAC
NM_007214.5:c.*3574_*3575insGAC
NM_007214.4:c.*3574_*3575insGAC
NC_000006.12:g.107868131_107868132insCGT
More... 		06/14/2016 3 prime utr variant benign POLYCYSTIC LIVER DISEASE 1 WITH OR WITHOUT KIDNEY CYSTS
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SEC63
Accession:XM_047418131
Location:3UTRS;EXON

Gene Symbol:SEC63
Accession:NM_007214
Location:3UTRS;EXON

Gene Symbol:SEC63
Accession:XM_047418130
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000342237 CLINVAR
dbSNP (RS) rs10685655 CLINVAR
MedGen C0887850 CLINVAR
NCBI Gene SEC63 CLINVAR
OMIM 174050 CLINVAR
  608648 CLINVAR