RGD:152039085 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:152039085 -  Homo sapiens

RGD ID: 152039085
RS ID: rs775435967
ClinVar ID: CV1592680
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DOCK7  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 62,961,371
GRCh38 1 62,495,700
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001272001.2:c.4804-19A>C
NM_033407.4:c.4831-19A>C
NM_001271999.2:c.4897-19A>C
NM_001330614.2:c.4897-19A>C
More... 		05/04/2021 intron variant likely benign Epileptic encephalopathy, early infantile, 23
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DOCK7
Accession:NM_001272000
Location:INTRON

Gene Symbol:DOCK7
Accession:NM_033407
Location:INTRON

Gene Symbol:DOCK7
Accession:XM_011542330
Location:INTRON

Gene Symbol:DOCK7
Accession:XM_017002639
Location:INTRON

Gene Symbol:DOCK7
Accession:XM_047432967
Location:INTRON

Gene Symbol:DOCK7
Accession:XM_047432964
Location:INTRON

Gene Symbol:DOCK7
Accession:NM_001330614
Location:INTRON

Gene Symbol:DOCK7
Accession:XM_017002640
Location:INTRON

Gene Symbol:DOCK7
Accession:NM_001272001
Location:INTRON

Gene Symbol:DOCK7
Accession:XM_011542327
Location:INTRON

Gene Symbol:DOCK7
Accession:NM_001272002
Location:INTRON

Gene Symbol:DOCK7
Accession:XM_011542328
Location:INTRON

Gene Symbol:DOCK7
Accession:XM_047432966
Location:INTRON

Gene Symbol:DOCK7
Accession:NM_001367561
Location:INTRON

Gene Symbol:DOCK7
Accession:NM_001271999
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002187981 CLINVAR
dbSNP (RS) rs775435967 CLINVAR
MedGen C4014492 CLINVAR
NCBI Gene DOCK7 CLINVAR
OMIM 615730 CLINVAR
  615859 CLINVAR