RGD:8565569 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:8565569 -  Homo sapiens

RGD ID: 8565569
RS ID: rs2066862
ClinVar ID: CV31410
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FGG  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 4 155,527,225
GRCh38 4 154,606,073
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_585t2:c.1129+632A>G
NM_000509.6:c.1129+632A>G
NM_021870.3:c.1129+632A>G
LRG_585:g.11678A>G
More... 		06/01/2023 intron variant pathogenic|benign|uncertain significance|other AllHighlyPenetrant; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FGG
Accession:NM_000509
Location:INTRON

Gene Symbol:FGG
Accession:NM_021870
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:1249208   PMID:4427684   PMID:8470043   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000017793 CLINVAR
  RCV002247352 CLINVAR
  RCV003317040 CLINVAR
  RCV003436923 CLINVAR
  RCV003934838 CLINVAR
dbSNP (RS) rs2066862 CLINVAR
MedGen C2584774 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene FGG CLINVAR
OMIM 134850 CLINVAR
  202400 CLINVAR
OMIM Allele 134850.0011 CLINVAR