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Variant : CV31857 (NM_001943.5(DSG2):c.166G>A (p.Val56Met)) Homo sapiens

Symbol: CV31857
Name: NM_001943.5(DSG2):c.166G>A (p.Val56Met)
Condition: Arrhythmogenic right ventricular cardiomyopathy [RCV000148471]|Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV000018311]|Cardiomyopathy [RCV000769508]|Cardiovascular phenotype [RCV000243248]|Catecholaminergic polymorphic ventricular tachycardia type 1 [RCV000157180]|Dilated cardiomyopathy 1BB [RCV000018312]|Long QT syndrome [RCV000852739]|Primary familial hypertrophic cardiomyopathy [RCV000157179]|not provided [RCV000757183]|not specified [RCV000037270]
Clinical Significance: pathogenic|risk factor|likely benign|conflicting interpretations of pathogenicity|uncertain significance
Last Evaluated: 12/31/2019
Review Status: classified by multiple submitters|classified by single submitter|criteria provided, conflicting interpretations|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter|no assertion criteria provided
Related Genes: DSG2  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: clinical testing|literature only|research
HGVS Name(s): NG_007072.3:g.26646G>A
NC_000018.10:g.31519887G>A
NC_000018.9:g.29099850G>A
NG_007072.2:g.26646G>A
c.166G>A
NP_001934.2:p.Val56Met
LRG_397:g.26646G>A
NM_001943.3:c.166G>A
Q14126:p.Val56Met
NM_001943.5:c.166G>A
NM_001943.4:c.166G>A
LRG_397t1:c.166G>A
NP_001934.2:p.Val56Met
NP_001934.2:p.Val56Met
Position
Human AssemblyChrPosition (strand)Source
GRCh381831,519,887 - 31,519,887CLINVAR
GRCh371829,099,850 - 29,099,850CLINVAR
Cytogenetic Map1818q12.1CLINVAR
Trait Synonyms: AllHighlyPenetrant; Arrhythmogenic right ventricular dysplasia; ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10; Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy10; Cardiomyopathy, ARVC; CARDIOMYOPATHY, DILATED, 1BB, SUSCEPTIBILITY TO; Hereditary ventricular hypertrophy; Idiopathic hypertrophic subaortic stenosis; Stress-induced polymorphic ventricular tachycardia; VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
Age Of Onset: all ages|childhood|variable
Prevalence: 1-5 / 10 000|1-9 / 100 000



References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8565847
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-08-04
Status: ACTIVE



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