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Variant : CV252943 (NM_000722.4(CACNA2D1):c.963G>A (p.Ala321=)) Homo sapiens

Symbol: CV252943
Name: NM_000722.4(CACNA2D1):c.963G>A (p.Ala321=)
Condition: Brugada syndrome [RCV000456811]|Cardiovascular phenotype [RCV000251668]|not specified [RCV000251903]
Clinical Significance: benign
Last Evaluated: 06/30/2017
Review Status: criteria provided, multiple submitters, no conflicts|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.410564G>A
NG_009358.2:g.410564G>A
NC_000007.14:g.82038152C>T
NC_000007.13:g.81667468C>T
NM_000722.2:c.963G>A
NP_000713.2:p.Ala321=
p.Ala321Ala
LRG_437t1:c.963G>A
NM_000722.4:c.963G>A
NM_001366867.1:c.963G>A
NM_000722.3:c.963G>A
NP_001353796.1:p.Ala321=
Position
Human AssemblyChrPosition (strand)Source
GRCh38782,038,152 - 82,038,152CLINVAR
GRCh37781,667,468 - 81,667,468CLINVAR
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: 11550370
Created: 2016-10-11
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.