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

Variant : CV258483 (NM_000722.4(CACNA2D1):c.960C>T (p.Asp320=)) Homo sapiens

Symbol: CV258483
Name: NM_000722.4(CACNA2D1):c.960C>T (p.Asp320=)
Condition: Brugada syndrome [RCV000466825]|Cardiovascular phenotype [RCV000253019]|not specified [RCV000433854]
Clinical Significance: benign|likely benign
Last Evaluated: 12/21/2016
Review Status: criteria provided, single submitter
Related Genes: CACNA2D1  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): LRG_437:g.410561C>T
NG_009358.2:g.410561C>T
NC_000007.14:g.82038155G>A
NC_000007.13:g.81667471G>A
NM_000722.2:c.960C>T
NP_000713.2:p.Asp320=
LRG_437t1:c.960C>T
NM_000722.4:c.960C>T
NM_001366867.1:c.960C>T
NM_000722.3:c.960C>T
NP_001353796.1:p.Asp320=
Position
Human AssemblyChrPosition (strand)Source
GRCh38782,038,155 - 82,038,155CLINVAR
GRCh37781,667,471 - 81,667,471CLINVAR
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: 11551415
Created: 2016-10-11
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.