Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

VARIANT - TERM ANNOTATION REPORT

CRRD ID: 8565847
Species: Homo sapiens
CRRD Object: Variant
Symbol: CV31857
Name: NM_001943.5(DSG2):c.166G>A (p.Val56Met)
Acc ID: DOID:0050431
Term: arrhythmogenic right ventricular cardiomyopathy
Definition: A congenital cardiomyopathy that is characterized by infiltration of adipose and fibrous tissue into the RIGHT VENTRICLE wall and loss of myocardial cells. Primary injuries usually are at the free wall of right ventricular and right atria resulting in ventricular and supraventricular arrhythmias.
Definition Source(s): http://en.wikipedia.org/wiki/Arrhythmogenic_right_ventricular_dysplasia "DO", http://ghr.nlm.nih.gov/condition/arrhythmogenic-right-ventricular-cardiomyopathy "DO", http://my.clevelandclinic.org/services/heart/disorders/arvd "DO", http://www.hopkinsmedicine.org/heart_vascular_institute/clinical_services/centers_excellence/arvd/patient_resources/questions.html "DO", MESH:D019571
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
CV31857 IAGP 8554872ClinVarClinVar Annotator: match by term: Cardiomyopathy, ARVC

PMID:17105751, PMID:18678517, PMID:19039334, PMID:20031616, PMID:20031617, PMID:20716751, PMID:20864495, PMID:21606390, PMID:23810883, PMID:23861362, PMID:24033266, PMID:24055113, PMID:25741868, PMID:28492532
Go Back to source page   Continue to Ontology report

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.