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Variant : CV189989 (NM_001943.5(DSG2):c.1063G>A (p.Ala355Thr)) Homo sapiens

Symbol: CV189989
Name: NM_001943.5(DSG2):c.1063G>A (p.Ala355Thr)
Condition: Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV001124514]|Cardiac arrest [RCV000208226]|Cardiomyopathy [RCV001181081]|Cardiovascular phenotype [RCV000621568]|not provided [RCV000171900]
Clinical Significance: likely benign|uncertain significance
Last Evaluated: 02/28/2019
Review Status: classified by single submitter|criteria provided, single submitter
Related Genes: DSG2  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing|research
HGVS Name(s): NG_007072.3:g.37794G>A
NC_000018.10:g.31531035G>A
NC_000018.9:g.29110998G>A
NP_001934.2:p.Ala355Thr
LRG_397t1:c.1063G>A
LRG_397:g.37794G>A
NM_001943.3:c.1063G>A
NM_001943.4:c.1063G>A
NM_001943.5:c.1063G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381831,531,035 - 31,531,035CLINVAR
GRCh371829,110,998 - 29,110,998CLINVAR
Cytogenetic Map1818q12.1CLINVAR
Trait Synonyms: 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: 10046296
Created: 2015-07-07
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.