RGD:11665907 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:11665907 -  Homo sapiens

RGD ID: 11665907
RS ID: rs538721412
ClinVar ID: CV335237
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL4A1  LOC127826882  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 13 110,959,477
GRCh38 13 110,307,130
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_032137.1:g.4847C>T
NG_011544.2:g.5020G>A
NC_000013.11:g.110307130C>T
NC_000013.10:g.110959477C>T
More... 		06/01/2022 2kb upstream variant|5 prime utr variant benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance childhood <1 / 1 000 000 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps; Brain small vessel disease with hemorrhage; none provided
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:COL4A1
Accession:NM_001303110
Location:5UTRS;EXON

Gene Symbol:COL4A1
Accession:NM_001845
Location:5UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000301792 CLINVAR
  RCV000397610 CLINVAR
  RCV002248605 CLINVAR
  RCV002262971 CLINVAR
dbSNP (RS) rs538721412 CLINVAR
MedGen C2673195 CLINVAR
  C3661900 CLINVAR
  C4082172 CLINVAR
  C4551998 CLINVAR
NCBI Gene COL4A1 CLINVAR
OMIM 120130 CLINVAR
  175780 CLINVAR
  611773 CLINVAR
SNOMED CT 65705009 CLINVAR