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Variant : CV635571 (NM_012281.3(KCND2):c.652G>C (p.Glu218Gln)) Homo sapiens

Symbol: CV635571
Name: NM_012281.3(KCND2):c.652G>C (p.Glu218Gln)
Condition: Early myoclonic encephalopathy [RCV000820813]
Clinical Significance: uncertain significance
Last Evaluated: 12/10/2018
Review Status: criteria provided, single submitter
Related Genes: KCND2  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_012281.3:c.652G>C
NG_034230.1:g.6617G>C
NC_000007.14:g.120275284G>C
NC_000007.13:g.119915338G>C
NM_012281.2:c.652G>C
NP_036413.1:p.Glu218Gln
Position
Human AssemblyChrPosition (strand)Source
GRCh387120,275,284 - 120,275,284CLINVAR
GRCh377119,915,338 - 119,915,338CLINVAR
Cytogenetic Map77q31.31CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14738180
Created: 2019-09-06
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.