RGD:11531214 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:11531214 -  Homo sapiens

RGD ID: 11531214
RS ID: rs879255522
ClinVar ID: CV247394
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CIT  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 120,260,623
GRCh38 12 119,822,819
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_029792.1:g.59473G>A
NC_000012.12:g.119822819C>T
NC_000012.11:g.120260623C>T
NM_001206999.2:c.1111+1G>A
More... 		03/17/2024 splice donor variant pathogenic antenatal 1-9 / 1 000 000|primary microcephaly has an incidence of 1:30,000 to 1:250,000. MCPH syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CIT
Accession:XM_011537790
Location:5UTRS;INTRON

Gene Symbol:CIT
Accession:XM_011537789
Location:INTRON

Gene Symbol:CIT
Accession:XM_017018735
Location:INTRON

Gene Symbol:CIT
Accession:NM_001206999
Location:INTRON

Gene Symbol:CIT
Accession:XM_047428134
Location:INTRON

Gene Symbol:CIT
Accession:XM_011537791
Location:INTRON

Gene Symbol:CIT
Accession:XM_011537788
Location:INTRON

Gene Symbol:CIT
Accession:XM_011537784
Location:INTRON

Gene Symbol:CIT
Accession:XM_011537787
Location:INTRON

Gene Symbol:CIT
Accession:XM_017018737
Location:INTRON

Gene Symbol:CIT
Accession:XM_006719206
Location:INTRON

Gene Symbol:CIT
Accession:XM_011537783
Location:INTRON

Gene Symbol:CIT
Accession:XM_011537785
Location:INTRON

Gene Symbol:CIT
Accession:XM_017018736
Location:INTRON

Gene Symbol:CIT
Accession:NM_007174
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741915   PMID:27453579   PMID:27503289  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000239414 CLINVAR
  RCV000240615 CLINVAR
dbSNP (RS) rs879255522 CLINVAR
MedGen C3711387 CLINVAR
  C4310723 CLINVAR
NCBI Gene CIT CLINVAR
OMIM 605629 CLINVAR
  617090 CLINVAR
OMIM Allele 605629.0004 CLINVAR