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Variant : CV523281 (NM_000722.4(CACNA2D1):c.2070T>G (p.Ile690Met)) Homo sapiens

Symbol: CV523281
Name: NM_000722.4(CACNA2D1):c.2070T>G (p.Ile690Met)
Condition: Brugada syndrome [RCV000638651]
Clinical Significance: uncertain significance
Last Evaluated: 08/30/2017
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.476868T>G
NG_009358.2:g.476868T>G
NP_000713.2:p.Ile690Met
NC_000007.14:g.81971848A>C
NC_000007.13:g.81601164A>C
NM_000722.3:c.2070T>G
NM_000722.4:c.2070T>G
NM_001366867.1:c.2106T>G
NP_001353796.1:p.Ile702Met
Position
Human AssemblyChrPosition (strand)Source
GRCh38781,971,848 - 81,971,848CLINVAR
GRCh37781,601,164 - 81,601,164CLINVAR
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: 13606760
Created: 2018-06-12
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.