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Variant : CV224355 (NM_000722.4(CACNA2D1):c.439C>T (p.Pro147Ser)) Homo sapiens

Symbol: CV224355
Name: NM_000722.4(CACNA2D1):c.439C>T (p.Pro147Ser)
Condition: Brugada syndrome [RCV000208135]
Clinical Significance: uncertain significance
Last Evaluated: 05/21/2015
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.331585C>T
NG_009358.2:g.331585C>T
NC_000007.14:g.82117131G>A
NC_000007.13:g.81746447G>A
NM_000722.2:c.439C>T
NP_000713.2:p.Pro147Ser
LRG_437t1:c.439C>T
NM_000722.4:c.439C>T
NM_001302890.2:c.439C>T
NM_001366867.1:c.439C>T
NP_001289819.1:p.Pro147Ser
NP_001353796.1:p.Pro147Ser
Position
Human AssemblyChrPosition (strand)Source
GRCh38782,117,131 - 82,117,131CLINVAR
GRCh37781,746,447 - 81,746,447CLINVAR
Cytogenetic Map77q21.11CLINVAR
Trait Synonyms: Sudden Unexplained Death Syndrome; Sudden unexplained nocturnal death syndrome; Sudden Unexplained Nocturnal Death Syndrome (SUNDS)



Disease Annotations
References - curated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11040315
Created: 2016-03-08
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.