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Variant : CV457482 (NM_000722.4(CACNA2D1):c.735C>T (p.Ile245=)) Homo sapiens

Symbol: CV457482
Name: NM_000722.4(CACNA2D1):c.735C>T (p.Ile245=)
Condition: Brugada syndrome [RCV000534464]
Clinical Significance: likely benign
Last Evaluated: 09/22/2017
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): LRG_437:g.384368C>T
NG_009358.2:g.384368C>T
NC_000007.14:g.82064348G>A
NC_000007.13:g.81693664G>A
NP_000713.2:p.Ile245=
NM_000722.4:c.735C>T
NM_001302890.2:c.735C>T
NM_001366867.1:c.735C>T
NM_000722.3:c.735C>T
NP_001289819.1:p.Ile245=
NP_001353796.1:p.Ile245=
Position
Human AssemblyChrPosition (strand)Source
GRCh38782,064,348 - 82,064,348CLINVAR
GRCh37781,693,664 - 81,693,664CLINVAR
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: 13491758
Created: 2018-01-09
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.