RGD:13479728 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:13479728 -  Homo sapiens

RGD ID: 13479728
RS ID: rs1553614878
ClinVar ID: CV443483
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL7A1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 48,628,018
GRCh38 3 48,590,585
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_286t1:c.1781-1G>C
LRG_286:g.9668G>C
NG_007065.1:g.9668G>C
NC_000003.12:g.48590585C>G
More... 		07/13/2020 splice acceptor variant pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:COL7A1
Accession:XM_017005692
Location:INTRON

Gene Symbol:COL7A1
Accession:NM_000094
Location:INTRON

Gene Symbol:COL7A1
Accession:XM_017005691
Location:INTRON

Gene Symbol:COL7A1
Accession:XM_017005689
Location:INTRON

Gene Symbol:COL7A1
Accession:XM_017005688
Location:INTRON

Gene Symbol:COL7A1
Accession:XM_017005690
Location:INTRON

Gene Symbol:COL7A1
Accession:XR_001740003
Location:INTRON;NON-CODING

Gene Symbol:COL7A1
Accession:XR_001740004
Location:INTRON;NON-CODING

Gene Symbol:COL7A1
Accession:XR_001740008
Location:INTRON;NON-CODING

Gene Symbol:COL7A1
Accession:XR_001740006
Location:INTRON;NON-CODING

Gene Symbol:COL7A1
Accession:XR_001740007
Location:INTRON;NON-CODING

Gene Symbol:COL7A1
Accession:XR_001740009
Location:INTRON;NON-CODING

Gene Symbol:COL7A1
Accession:XR_001740005
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000521032 CLINVAR
dbSNP (RS) rs1553614878 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene COL7A1 CLINVAR
OMIM 120120 CLINVAR