Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV636353 (NM_000722.4(CACNA2D1):c.1667G>A (p.Arg556Gln)) Homo sapiens

Symbol: CV636353
Name: NM_000722.4(CACNA2D1):c.1667G>A (p.Arg556Gln)
Condition: Brugada syndrome [RCV000819194]
Clinical Significance: uncertain significance
Last Evaluated: 07/06/2018
Review Status: criteria provided, single submitter
Related Genes: CACNA2D1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_000722.4:c.1667G>A
NM_001366867.1:c.1724G>A
LRG_437:g.453781G>A
NG_009358.2:g.453781G>A
NC_000007.14:g.81994935C>T
NC_000007.13:g.81624251C>T
NM_000722.3:c.1667G>A
NP_000713.2:p.Arg556Gln
NP_001353796.1:p.Arg575Gln
Position
Human AssemblyChrPosition (strand)Source
GRCh38781,994,935 - 81,994,935CLINVAR
GRCh37781,624,251 - 81,624,251CLINVAR
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: 14734632
Created: 2019-09-06
Species: Homo sapiens
Last Modified: 2019-11-05
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.