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Variant : CV359840 (NM_000722.4(CACNA2D1):c.1066A>G (p.Lys356Glu)) Homo sapiens

Symbol: CV359840
Name: NM_000722.4(CACNA2D1):c.1066A>G (p.Lys356Glu)
Condition: Brugada syndrome [RCV000823542]|not specified [RCV000413823]
Clinical Significance: uncertain significance
Last Evaluated: 08/22/2018
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): LRG_437:g.415842A>G
NG_009358.2:g.415842A>G
NC_000007.14:g.82032874T>C
NC_000007.13:g.81662190T>C
NM_000722.2:c.1066A>G
NP_000713.2:p.Lys356Glu
LRG_437t1:c.1066A>G
NM_000722.4:c.1066A>G
NM_001366867.1:c.1066A>G
NM_000722.3:c.1066A>G
NP_001353796.1:p.Lys356Glu
Position
Human AssemblyChrPosition (strand)Source
GRCh38782,032,874 - 82,032,874CLINVAR
GRCh37781,662,190 - 81,662,190CLINVAR
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: 12741013
Created: 2017-02-07
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.