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Variant : CV679558 (NM_001943.5(DSG2):c.2001+3C>G) Homo sapiens

Symbol: CV679558
Name: NM_001943.5(DSG2):c.2001+3C>G
Condition: Cardiomyopathy [RCV001184512]|Left ventricular noncompaction cardiomyopathy [RCV000853140]
Clinical Significance: likely benign|uncertain significance
Last Evaluated: 07/03/2019
Review Status: criteria provided, single submitter
Related Genes: DSG2  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing|research
HGVS Name(s): NM_001943.5:c.2001+3C>G
NG_007072.3:g.48076C>G
NC_000018.10:g.31541317C>G
NC_000018.9:g.29121280C>G
NM_001943.3:c.2001+3C>G
LRG_397:g.48076C>G
LRG_397t1:c.2001+3C>G
NM_001943.4:c.2001+3C>G
Position
Human AssemblyChrPosition (strand)Source
GRCh381831,541,317 - 31,541,317CLINVAR
GRCh371829,121,280 - 29,121,280CLINVAR
Cytogenetic Map1818q12.1CLINVAR
Trait Synonyms: Left ventricular non-compaction cardiomyopathy



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 15015062
Created: 2019-11-12
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.