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Variant : CV522087 (NM_012281.3(KCND2):c.670C>A (p.Arg224=)) Homo sapiens

Symbol: CV522087
Name: NM_012281.3(KCND2):c.670C>A (p.Arg224=)
Condition: Early myoclonic encephalopathy [RCV000635192]
Clinical Significance: benign
Last Evaluated: 08/26/2017
Review Status: criteria provided, single submitter
Related Genes: KCND2  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NG_034230.1:g.6635C>A
NC_000007.14:g.120275302C>A
NC_000007.13:g.119915356C>A
NP_036413.1:p.Arg224=
NM_012281.3:c.670C>A
NM_012281.2:c.670C>A
Position
Human AssemblyChrPosition (strand)Source
GRCh387120,275,302 - 120,275,302CLINVAR
GRCh377119,915,356 - 119,915,356CLINVAR
Cytogenetic Map77q31.31CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13618856
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.