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Variant : CV396040 (NM_000722.4(CACNA2D1):c.2142C>G (p.Ile714Met)) Homo sapiens

Symbol: CV396040
Name: NM_000722.4(CACNA2D1):c.2142C>G (p.Ile714Met)
Condition: Brugada syndrome [RCV000458553]
Clinical Significance: uncertain significance
Last Evaluated: 02/14/2017
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): LRG_437:g.477979C>G
NG_009358.2:g.477979C>G
NC_000007.14:g.81970737G>C
NC_000007.13:g.81600053G>C
NP_000713.2:p.Ile714Met
NM_001366867.1:c.2178C>G
NM_000722.3:c.2142C>G
NP_001353796.1:p.Ile726Met
NM_000722.4:c.2142C>G
Position
Human AssemblyChrPosition (strand)Source
GRCh38781,970,737 - 81,970,737CLINVAR
GRCh37781,600,053 - 81,600,053CLINVAR
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: 12881845
Created: 2017-05-09
Species: Homo sapiens
Last Modified: 2019-11-12
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.