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Variant : CV371366 (NM_000722.4(CACNA2D1):c.1899G>A (p.Ser633=)) Homo sapiens

Symbol: CV371366
Name: NM_000722.4(CACNA2D1):c.1899G>A (p.Ser633=)
Condition: Brugada syndrome [RCV000638765]|not specified [RCV000423170]
Clinical Significance: likely benign
Last Evaluated: 11/18/2017
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): NM_000722.3:c.1899G>A
NP_001353796.1:p.Ser645=
LRG_437:g.466093G>A
NG_009358.2:g.466093G>A
NC_000007.14:g.81982623C>T
NC_000007.13:g.81611939C>T
NM_000722.2:c.1899G>A
NP_000713.2:p.Ser633=
LRG_437t1:c.1899G>A
NM_000722.4:c.1899G>A
NM_001366867.1:c.1935G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38781,982,623 - 81,982,623CLINVAR
GRCh37781,611,939 - 81,611,939CLINVAR
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: 12836308
Created: 2017-04-11
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.