RGD:11625636 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:11625636 -  Homo sapiens

RGD ID: 11625636
RS ID: rs45615432
ClinVar ID: CV344232
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABAT  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 8,876,862
GRCh38 16 8,783,005
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_008432.1:g.113419A>G
NC_000016.10:g.8783005A>G
NC_000016.9:g.8876862A>G
NM_001386607.1:c.*1575A>G
More... 		01/12/2018 3 prime utr variant benign|likely benign infancy <1 / 1 000 000 4 alpha aminobutyrate transaminase deficiency; GABA aminotransaminase deficiency; GABA transaminase deficiency; Gamma aminobutyrate transaminase deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ABAT
Accession:XM_047433687
Location:3UTRS;EXON

Gene Symbol:ABAT
Accession:XM_047433686
Location:3UTRS;EXON

Gene Symbol:ABAT
Accession:NM_001386602
Location:3UTRS;EXON

Gene Symbol:ABAT
Accession:NM_001386614
Location:3UTRS;EXON

Gene Symbol:ABAT
Accession:NM_001386616
Location:3UTRS;EXON

Gene Symbol:ABAT
Accession:NM_001386607
Location:3UTRS;EXON

Gene Symbol:ABAT
Accession:NM_020686
Location:3UTRS;EXON

Gene Symbol:ABAT
Accession:NM_001386601
Location:3UTRS;EXON

Gene Symbol:ABAT
Accession:NM_001386609
Location:3UTRS;EXON

Gene Symbol:ABAT
Accession:NM_001386610
Location:3UTRS;EXON

Gene Symbol:ABAT
Accession:NM_001386611
Location:3UTRS;EXON

Gene Symbol:ABAT
Accession:NM_001127448
Location:3UTRS;EXON

Gene Symbol:ABAT
Accession:XM_047433685
Location:3UTRS;EXON

Gene Symbol:ABAT
Accession:NM_001386612
Location:3UTRS;EXON

Gene Symbol:ABAT
Accession:NM_001386605
Location:3UTRS;EXON

Gene Symbol:ABAT
Accession:NM_001386604
Location:3UTRS;EXON

Gene Symbol:ABAT
Accession:NM_001386600
Location:3UTRS;EXON

Gene Symbol:ABAT
Accession:NM_001386608
Location:3UTRS;EXON

Gene Symbol:ABAT
Accession:NM_001386606
Location:3UTRS;EXON

Gene Symbol:ABAT
Accession:NM_001386613
Location:3UTRS;EXON

Gene Symbol:ABAT
Accession:NM_000663
Location:3UTRS;EXON

Gene Symbol:ABAT
Accession:NM_001386615
Location:3UTRS;EXON

Gene Symbol:ABAT
Accession:NM_001386603
Location:3UTRS;EXON

Gene Symbol:ABAT
Accession:XM_047433688
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000401084 CLINVAR
dbSNP (RS) rs45615432 CLINVAR
MedGen C0342708 CLINVAR
NCBI Gene ABAT CLINVAR
OMIM 137150 CLINVAR
  613163 CLINVAR
SNOMED CT 237941007 CLINVAR