RGD:10050393 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:10050393 -  Homo sapiens

RGD ID: 10050393
RS ID: rs9978104
ClinVar ID: CV191855
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CBS  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 44,473,980
GRCh38 21 43,053,870
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008938.1:g.27061C>A
NC_000021.9:g.43053870G>T
NC_000021.8:g.44473980G>T
LRG_777t1:c.*10C>A
More... 		06/14/2016 3 prime utr variant benign AllHighlyPenetrant; CBS deficiency; Cystathionine beta-synthase deficiency; Homocystinuria due to CBS deficiency; Homocystinuria due to cystathionine beta-synthase deficiency; HOMOCYSTINURIA WITH OR WITHOUT RESPONSE TO PYRIDOXINE
Disease Annotations     Click to see Annotation Detail View
homocystinuria  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:CBS
Accession:NM_001321072
Location:3UTRS;EXON

Gene Symbol:CBS
Accession:XM_047441019
Location:3UTRS;EXON

Gene Symbol:CBS
Accession:XM_047441027
Location:3UTRS;EXON

Gene Symbol:CBS
Accession:XM_047441028
Location:3UTRS;EXON

Gene Symbol:CBS
Accession:XM_047441018
Location:3UTRS;EXON

Gene Symbol:CBS
Accession:XM_047441022
Location:3UTRS;EXON

Gene Symbol:CBS
Accession:XM_047441025
Location:3UTRS;EXON

Gene Symbol:CBS
Accession:XM_047441031
Location:3UTRS;EXON

Gene Symbol:CBS
Accession:XM_047441024
Location:3UTRS;EXON

Gene Symbol:CBS
Accession:XM_047441023
Location:3UTRS;EXON

Gene Symbol:CBS
Accession:NM_001320298
Location:3UTRS;EXON

Gene Symbol:CBS
Accession:XM_047441021
Location:3UTRS;EXON

Gene Symbol:CBS
Accession:XM_047441017
Location:3UTRS;EXON

Gene Symbol:CBS
Accession:XM_047441020
Location:3UTRS;EXON

Gene Symbol:CBS
Accession:NM_001178009
Location:3UTRS;EXON

Gene Symbol:CBS
Accession:XM_011529783
Location:3UTRS;EXON

Gene Symbol:CBS
Accession:XM_047441030
Location:3UTRS;EXON

Gene Symbol:CBS
Accession:XM_047441033
Location:3UTRS;EXON

Gene Symbol:CBS
Accession:XM_011529777
Location:3UTRS;EXON

Gene Symbol:CBS
Accession:XM_047441026
Location:3UTRS;EXON

Gene Symbol:CBS
Accession:NM_001178008
Location:3UTRS;EXON

Gene Symbol:CBS
Accession:NM_000071
Location:3UTRS;EXON

Gene Symbol:CBS
Accession:XM_047441029
Location:3UTRS;EXON

Gene Symbol:CBS
Accession:XM_047441032
Location:3UTRS;EXON

Gene Symbol:CBS
Accession:XM_011529774
Location:3UTRS;EXON

Gene Symbol:CBS
Accession:XM_017028491
Location:3UTRS;EXON

Gene Symbol:CBS
Accession:XR_007067793
Location:INTRON;NON-CODING

Gene Symbol:CBS
Accession:XR_001754915
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:24033266  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000175120 CLINVAR
  RCV000343292 CLINVAR
dbSNP (RS) rs9978104 CLINVAR
MedGen C0751202 CLINVAR
  CN169374 CLINVAR
NCBI Gene CBS CLINVAR
OMIM 236200 CLINVAR
  613381 CLINVAR