RGD:11550177 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:11550177 -  Homo sapiens

RGD ID: 11550177
RS ID: rs3135889
ClinVar ID: CV251383
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FGFR3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 4 1,806,041
GRCh38 4 1,804,314
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012632.1:g.16003G>A
NC_000004.12:g.1804314G>A
NC_000004.11:g.1806041G>A
NM_001354809.2:c.1076-16G>A
More... 		05/05/2020 intron variant benign|likely benign AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:FGFR3
Accession:XM_006713873
Location:INTRON

Gene Symbol:FGFR3
Accession:XM_047449822
Location:INTRON

Gene Symbol:FGFR3
Accession:XM_047449823
Location:INTRON

Gene Symbol:FGFR3
Accession:XM_006713868
Location:INTRON

Gene Symbol:FGFR3
Accession:XM_006713869
Location:INTRON

Gene Symbol:FGFR3
Accession:NM_001163213
Location:INTRON

Gene Symbol:FGFR3
Accession:NM_000142
Location:INTRON

Gene Symbol:FGFR3
Accession:NM_022965
Location:INTRON

Gene Symbol:FGFR3
Accession:NM_001354809
Location:INTRON

Gene Symbol:FGFR3
Accession:XM_047449820
Location:INTRON

Gene Symbol:FGFR3
Accession:XM_011513422
Location:INTRON

Gene Symbol:FGFR3
Accession:NM_001354810
Location:INTRON

Gene Symbol:FGFR3
Accession:XM_047449824
Location:INTRON

Gene Symbol:FGFR3
Accession:XM_011513420
Location:INTRON

Gene Symbol:FGFR3
Accession:XM_006713870
Location:INTRON

Gene Symbol:FGFR3
Accession:XM_006713871
Location:INTRON

Gene Symbol:FGFR3
Accession:XM_047449821
Location:INTRON

Gene Symbol:FGFR3
Accession:NR_148971
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000251398 CLINVAR
  RCV001723836 CLINVAR
dbSNP (RS) rs3135889 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene FGFR3 CLINVAR
OMIM 134934 CLINVAR