RGD:28888726 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:28888726 -  Homo sapiens

RGD ID: 28888726
RS ID: rs1188556155
ClinVar ID: CV876618
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLCN7  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 1,504,474
GRCh38 16 1,454,473
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000016.9:g.1504474G>A
NM_001114331.3:c.1027-8C>T
NM_001287.6:c.1099-8C>T
NG_007567.1:g.25612C>T
More... 		02/13/2021 intron variant likely benign|uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View
osteopetrosis  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Osteopetrosis  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:CLCN7
Accession:XM_011522354
Location:INTRON

Gene Symbol:CLCN7
Accession:NM_001114331
Location:INTRON

Gene Symbol:CLCN7
Accession:NM_001287
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001120017 CLINVAR
  RCV002069951 CLINVAR
dbSNP (RS) rs1188556155 CLINVAR
MedGen C0029454 CLINVAR
  C3661900 CLINVAR
NCBI Gene CLCN7 CLINVAR
OMIM 602727 CLINVAR