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Variant : CV396051 (NM_000722.4(CACNA2D1):c.659-3del) Homo sapiens

Symbol: CV396051
Name: NM_000722.4(CACNA2D1):c.659-3del
Condition: Brugada syndrome [RCV000472891]
Clinical Significance: benign
Last Evaluated: 12/29/2016
Review Status: criteria provided, single submitter
Related Genes: CACNA2D1  
Variant Type: deletion (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NM_001302890.2:c.659-3del
LRG_437t1:c.659-3del
NM_000722.4:c.659-3del
NC_000007.14:g.82066542del
NC_000007.13:g.81695858del
NM_000722.2:c.659-3delT
NM_000722.2:c.659-3delT
NM_001366867.1:c.659-3del
NG_009358.2:g.382189del
Position
Human AssemblyChrPosition (strand)Source
GRCh38782,066,527 - 82,066,527CLINVAR
GRCh37781,695,843 - 81,695,843CLINVAR
Cytogenetic Map77q21.11CLINVAR
Trait Synonyms: Sudden Unexplained Death Syndrome; Sudden unexplained nocturnal death syndrome; Sudden Unexplained Nocturnal Death Syndrome (SUNDS)



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 12889518
Created: 2017-05-09
Species: Homo sapiens
Last Modified: 2019-11-05
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.