RGD:11075172 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:11075172 -  Homo sapiens

RGD ID: 11075172
RS ID: rs869320640
ClinVar ID: CV227049
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LRP6  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 12,279,857
GRCh38 12 12,126,923
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000012.12:g.12126923T>C
NC_000012.11:g.12279857T>C
NG_016168.2:g.144955A>G
NM_002336.3:c.4082-2A>G
More... 		03/10/2016 splice acceptor variant likely pathogenic Decreased number of teeth; Decreased tooth count; Failure of development of some teeth; Fewer teeth than normal; Missing some teeth; Reduced number of teeth
Disease Annotations     Click to see Annotation Detail View
tooth agenesis  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Tooth agenesis  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:LRP6
Accession:NM_001414253
Location:INTRON

Gene Symbol:LRP6
Accession:NM_001414245
Location:INTRON

Gene Symbol:LRP6
Accession:NM_001414255
Location:INTRON

Gene Symbol:LRP6
Accession:NM_001414251
Location:INTRON

Gene Symbol:LRP6
Accession:NM_001414244
Location:INTRON

Gene Symbol:LRP6
Accession:NM_001414249
Location:INTRON

Gene Symbol:LRP6
Accession:NM_001414248
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:LRP6
Accession:NM_001414247
Location:INTRON

Gene Symbol:LRP6
Accession:NM_001414252
Location:INTRON

Gene Symbol:LRP6
Accession:NM_002336
Location:INTRON

Gene Symbol:LRP6
Accession:NM_001414250
Location:INTRON

Gene Symbol:LRP6
Accession:NM_001414246
Location:INTRON

Gene Symbol:LRP6
Accession:XM_047428844
Location:INTRON

Gene Symbol:LRP6
Accession:NM_001414254
Location:INTRON

Gene Symbol:LRP6
Accession:XR_002957325
Location:INTRON;NON-CODING

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

Gene Symbol:LRP6
Accession:NR_182264
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:22813217   PMID:26963285  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001782698 CLINVAR
dbSNP (RS) rs869320640 CLINVAR
MedGen C4024202 CLINVAR
NCBI Gene LRP6 CLINVAR
OMIM 603507 CLINVAR