RGD:11645692 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:11645692 -  Homo sapiens

RGD ID: 11645692
RS ID: rs886062913
ClinVar ID: CV314196
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FGFR1  LOC127459209  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 38,270,301
GRCh38 8 38,412,783
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_007729.1:g.61052T>C
NC_000008.11:g.38412783A>G
NC_000008.10:g.38270301A>G
LRG_993:g.61052T>C
More... 		01/12/2018 3 prime utr variant uncertain significance antenatal|neonatal 1-9 / 100 000|<1 / 1 000 000 Craniosynostosis; Fairbank-Keats syndrome; HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SUSCEPTIBILITY TO; HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA; HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA, SUSCEPTIBILITY TO; Kallmann syndrome 2; Osteoglophonic dwarfism
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:FGFR1
Accession:NM_023106
Location:3UTRS;EXON

Gene Symbol:FGFR1
Accession:NM_023105
Location:3UTRS;EXON

Gene Symbol:FGFR1
Accession:NM_015850
Location:3UTRS;EXON

Gene Symbol:FGFR1
Accession:NM_001174063
Location:3UTRS;EXON

Gene Symbol:FGFR1
Accession:NM_023110
Location:3UTRS;EXON

Gene Symbol:FGFR1
Accession:NM_001174064
Location:3UTRS;EXON

Gene Symbol:FGFR1
Accession:NM_001174066
Location:3UTRS;EXON

Gene Symbol:FGFR1
Accession:NM_001174065
Location:3UTRS;EXON

Gene Symbol:FGFR1
Accession:NM_001174067
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:FGFR1
Accession:NM_001354368
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:FGFR1
Accession:NM_001410922
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:FGFR1
Accession:NM_001354370
Location:INTRON

Gene Symbol:FGFR1
Accession:NM_001354367
Location:INTRON

Gene Symbol:FGFR1
Accession:NM_001354369
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000266916 CLINVAR
  RCV000322103 CLINVAR
  RCV000358204 CLINVAR
  RCV000361593 CLINVAR
dbSNP (RS) rs886062913 CLINVAR
MedGen C0010278 CLINVAR
  C0432122 CLINVAR
  C0432283 CLINVAR
  C1563720 CLINVAR
NCBI Gene FGFR1 CLINVAR
  LOC102723716 CLINVAR
OMIM 136350 CLINVAR
  147950 CLINVAR
  166250 CLINVAR
  190440 CLINVAR
SNOMED CT 254144002 CLINVAR
  57219006 CLINVAR