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Variant : CV396450 (NM_000722.4(CACNA2D1):c.1516-10del) Homo sapiens

Symbol: CV396450
Name: NM_000722.4(CACNA2D1):c.1516-10del
Condition: Brugada syndrome [RCV000470076]|not specified [RCV000610367]
Clinical Significance: benign
Last Evaluated: 03/16/2018
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_000722.2:c.1516-10delT
NM_000722.4:c.1516-10del
NM_001366867.1:c.1516-10del
NC_000007.14:g.82005520del
NC_000007.13:g.81634836del
LRG_437t1:c.1516-10del
NM_000722.2:c.1516-10delT
NG_009358.2:g.443209del
Position
Human AssemblyChrPosition (strand)Source
GRCh38782,005,507 - 82,005,507CLINVAR
GRCh37781,634,823 - 81,634,823CLINVAR
Cytogenetic Map77q21.11CLINVAR
Trait Synonyms: AllHighlyPenetrant; 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: 12887987
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.