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Variant : CV53484 (NM_001943.5(DSG2):c.437G>T (p.Arg146Leu)) Homo sapiens

Symbol: CV53484
Name: NM_001943.5(DSG2):c.437G>T (p.Arg146Leu)
Condition: Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV001080090]|Cardiac arrest [RCV000208207]|Cardiomyopathy [RCV000770546]|Cardiovascular phenotype [RCV000243170]|Dilated Cardiomyopathy, Dominant [RCV000371635]|Hypertrophic cardiomyopathy [RCV000852471]|not provided [RCV000172528]|not specified [RCV000037305]
Clinical Significance: likely benign|conflicting interpretations of pathogenicity|uncertain significance
Last Evaluated: 12/31/2019
Review Status: 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|research
HGVS Name(s): NG_007072.3:g.27916G>T
NC_000018.10:g.31521157G>T
NC_000018.9:g.29101120G>T
NP_001934.2:p.Arg146Leu
c.437G>T
LRG_397t1:c.437G>T
LRG_397:g.27916G>T
NM_001943.5:c.437G>T
NM_001943.3:c.437G>T
NM_001943.4:c.437G>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381831,521,157 - 31,521,157CLINVAR
GRCh371829,101,120 - 29,101,120CLINVAR
Cytogenetic Map1818q12.1CLINVAR
Trait Synonyms: AllHighlyPenetrant; ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10; Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy10



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8607130
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.