RGD:28874592 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:28874592 -  Homo sapiens

RGD ID: 28874592
RS ID: rs143732634
ClinVar ID: CV874726
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IFT140  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 1,560,542
GRCh38 16 1,510,541
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_014714.4:c.*403G>A
NC_000016.9:g.1560542C>T
NM_014714.3:c.*403G>A
NG_032783.1:g.106568G>A
More... 		01/13/2018 3 prime utr variant likely benign Conorenal syndrome; Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia; SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SHORT-RIB THORACIC DYSPLASIA 9 WITHOUT POLYDACTYLY
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:IFT140
Accession:NM_014714
Location:3UTRS;EXON

Gene Symbol:IFT140
Accession:XM_011522767
Location:3UTRS;EXON

Gene Symbol:IFT140
Accession:XM_047434970
Location:3UTRS;EXON

Gene Symbol:IFT140
Accession:XM_047434965
Location:3UTRS;EXON

Gene Symbol:IFT140
Accession:XM_047434967
Location:3UTRS;EXON

Gene Symbol:IFT140
Accession:XM_006720990
Location:3UTRS;EXON

Gene Symbol:IFT140
Accession:XM_006720991
Location:3UTRS;EXON

Gene Symbol:IFT140
Accession:XM_047434968
Location:3UTRS;EXON

Gene Symbol:IFT140
Accession:XM_006720992
Location:3UTRS;EXON

Gene Symbol:IFT140
Accession:XM_047434969
Location:3UTRS;EXON

Gene Symbol:IFT140
Accession:XM_047434966
Location:3UTRS;EXON

Gene Symbol:IFT140
Accession:XM_047434971
Location:3UTRS;EXON

Gene Symbol:IFT140
Accession:XM_047434978
Location:INTRON

Gene Symbol:IFT140
Accession:XM_011522771
Location:INTRON

Gene Symbol:IFT140
Accession:XM_011522769
Location:INTRON

Gene Symbol:IFT140
Accession:XM_047434974
Location:INTRON

Gene Symbol:IFT140
Accession:XM_047434973
Location:INTRON

Gene Symbol:IFT140
Accession:XM_011522772
Location:INTRON

Gene Symbol:IFT140
Accession:XM_047434972
Location:INTRON

Gene Symbol:IFT140
Accession:XM_005255725
Location:INTRON

Gene Symbol:IFT140
Accession:XM_005255726
Location:INTRON

Gene Symbol:IFT140
Accession:XM_047434977
Location:INTRON

Gene Symbol:IFT140
Accession:XM_047434980
Location:INTRON

Gene Symbol:IFT140
Accession:XM_047434975
Location:INTRON

Gene Symbol:IFT140
Accession:XM_047434976
Location:INTRON

Gene Symbol:IFT140
Accession:XM_047434979
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001115522 CLINVAR
dbSNP (RS) rs143732634 CLINVAR
MedGen C1849437 CLINVAR
NCBI Gene IFT140 CLINVAR
OMIM 266920 CLINVAR
  614620 CLINVAR
SNOMED CT 254092004 CLINVAR