RGD:13530814 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:13530814 -  Homo sapiens

RGD ID: 13530814
RS ID: rs1555116939
ClinVar ID: CV503798
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABCC9  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 22,069,852
GRCh38 12 21,916,918
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012819.1:g.24777T>C
LRG_377:g.24777T>C
NC_000012.11:g.22069852A>G
LRG_377t1:c.573+19T>C
More... 		02/22/2018 intron variant likely benign AllHighlyPenetrant; CARDIOMYOPATHY, DILATED, WITH VENTRICULAR TACHYCARDIA
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ABCC9
Accession:NM_001377274
Location:5UTRS;INTRON

Gene Symbol:ABCC9
Accession:NM_005691
Location:INTRON

Gene Symbol:ABCC9
Accession:XM_005253288
Location:INTRON

Gene Symbol:ABCC9
Accession:NM_020297
Location:INTRON

Gene Symbol:ABCC9
Accession:XM_005253290
Location:INTRON

Gene Symbol:ABCC9
Accession:XM_011520545
Location:INTRON

Gene Symbol:ABCC9
Accession:NM_001377273
Location:INTRON

Gene Symbol:ABCC9
Accession:XM_005253289
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000600840 CLINVAR
  RCV003117414 CLINVAR
dbSNP (RS) rs1555116939 CLINVAR
MedGen C1837839 CLINVAR
  CN169374 CLINVAR
NCBI Gene ABCC9 CLINVAR
OMIM 601439 CLINVAR
  608569 CLINVAR