RGD:13495926 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:13495926 -  Homo sapiens

RGD ID: 13495926
RS ID: rs149927288
ClinVar ID: CV451831
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TFG  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 100,447,709
GRCh38 3 100,728,865
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001007565.2:c.415+7C>G
NC_000003.12:g.100728865C>G
NC_000003.11:g.100447709C>G
NM_006070.5:c.415+7C>G
More... 		04/16/2018 intron variant benign HEREDITARY MOTOR AND SENSORY NEUROPATHY, PROXIMAL TYPE; Hereditary spastic paraplegia 57; Spastic paraplegia 57, autosomal recessive
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TFG
Accession:NM_001195478
Location:INTRON

Gene Symbol:TFG
Accession:NM_006070
Location:INTRON

Gene Symbol:TFG
Accession:XM_047447244
Location:INTRON

Gene Symbol:TFG
Accession:NM_001195479
Location:INTRON

Gene Symbol:TFG
Accession:XM_047447241
Location:INTRON

Gene Symbol:TFG
Accession:NM_001007565
Location:INTRON

Gene Symbol:TFG
Accession:XM_047447242
Location:INTRON

Gene Symbol:TFG
Accession:XM_006713472
Location:INTRON

Gene Symbol:TFG
Accession:XM_011512334
Location:INTRON

Gene Symbol:TFG
Accession:XM_005247066
Location:INTRON

Gene Symbol:TFG
Accession:XM_017005527
Location:INTRON

Gene Symbol:TFG
Accession:XM_047447243
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000559987 CLINVAR
dbSNP (RS) rs149927288 CLINVAR
MedGen C1858338 CLINVAR
NCBI Gene TFG CLINVAR
OMIM 602498 CLINVAR
  604484 CLINVAR
  615658 CLINVAR