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Variant : CV224538 (NM_001943.5(DSG2):c.2188A>G (p.Thr730Ala)) Homo sapiens

Symbol: CV224538
Name: NM_001943.5(DSG2):c.2188A>G (p.Thr730Ala)
Condition: Cardiac arrest [RCV000208434]|Cardiomyopathy [RCV001192093]
Clinical Significance: uncertain significance
Last Evaluated: 12/30/2019
Review Status: criteria provided, single submitter
Related Genes: DSG2   DSG2-AS1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): LRG_397:g.49465A>G
NG_007072.3:g.49465A>G
NC_000018.10:g.31542706A>G
NC_000018.9:g.29122669A>G
NM_001943.3:c.2188A>G
NP_001934.2:p.Thr730Ala
LRG_397t1:c.2188A>G
NM_001943.5:c.2188A>G
NM_001943.4:c.2188A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh381831,542,706 - 31,542,706CLINVAR
GRCh371829,122,669 - 29,122,669CLINVAR
Cytogenetic Map1818q12.1CLINVAR



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11040136
Created: 2016-03-08
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.