RGD:13536842 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:13536842 -  Homo sapiens

RGD ID: 13536842
RS ID: rs1337392511
ClinVar ID: CV502098
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BCKDHB  LOC127406672  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 6 80,816,614
GRCh38 6 80,106,897
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000006.12:g.80106897C>G
NC_000006.11:g.80816614C>G
NM_183050.2:c.196+8C>G
NM_001318975.1:c.-15+214C>G
More... 		01/27/2017 intron variant likely benign AllHighlyPenetrant; Keto acid decarboxylase deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BCKDHB
Accession:NM_001318975
Location:5UTRS;INTRON

Gene Symbol:BCKDHB
Accession:NM_001424043
Location:5UTRS;INTRON

Gene Symbol:BCKDHB
Accession:NM_000056
Location:INTRON

Gene Symbol:BCKDHB
Accession:XM_047419210
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:BCKDHB
Accession:NM_001424036
Location:INTRON

Gene Symbol:BCKDHB
Accession:NM_001424041
Location:INTRON

Gene Symbol:BCKDHB
Accession:XM_005248756
Location:INTRON

Gene Symbol:BCKDHB
Accession:XM_047419212
Location:INTRON

Gene Symbol:BCKDHB
Accession:XM_047419214
Location:INTRON

Gene Symbol:BCKDHB
Accession:NM_001424044
Location:INTRON

Gene Symbol:BCKDHB
Accession:XM_047419211
Location:INTRON

Gene Symbol:BCKDHB
Accession:NM_001424042
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:BCKDHB
Accession:XM_047419207
Location:INTRON

Gene Symbol:BCKDHB
Accession:NM_001424040
Location:INTRON

Gene Symbol:BCKDHB
Accession:NM_001424045
Location:INTRON

Gene Symbol:BCKDHB
Accession:XM_047419213
Location:INTRON

Gene Symbol:BCKDHB
Accession:NM_001424039
Location:INTRON

Gene Symbol:BCKDHB
Accession:NM_001424037
Location:INTRON

Gene Symbol:BCKDHB
Accession:NM_183050
Location:INTRON

Gene Symbol:BCKDHB
Accession:NM_001424035
Location:INTRON

Gene Symbol:BCKDHB
Accession:NM_001424038
Location:INTRON

Gene Symbol:BCKDHB
Accession:NR_187565
Location:INTRON;NON-CODING

Gene Symbol:BCKDHB
Accession:NR_187564
Location:INTRON;NON-CODING

Gene Symbol:BCKDHB
Accession:NR_187562
Location:INTRON;NON-CODING

Gene Symbol:BCKDHB
Accession:NR_187561
Location:INTRON;NON-CODING

Gene Symbol:BCKDHB
Accession:NR_134945
Location:INTRON;NON-CODING

Gene Symbol:BCKDHB
Accession:XR_001743546
Location:INTRON;NON-CODING

Gene Symbol:BCKDHB
Accession:NR_187563
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000609567 CLINVAR
  RCV001403746 CLINVAR
dbSNP (RS) rs1337392511 CLINVAR
MedGen C0024776 CLINVAR
  CN169374 CLINVAR
NCBI Gene BCKDHB CLINVAR
OMIM 248600 CLINVAR
  248611 CLINVAR
SNOMED CT 27718001 CLINVAR