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Variant : CV635568 (NM_012281.3(KCND2):c.322C>T (p.Arg108Cys)) Homo sapiens

Symbol: CV635568
Name: NM_012281.3(KCND2):c.322C>T (p.Arg108Cys)
Condition: Early myoclonic encephalopathy [RCV000810447]
Clinical Significance: uncertain significance
Last Evaluated: 12/13/2018
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): NG_034230.1:g.6287C>T
NC_000007.14:g.120274954C>T
NC_000007.13:g.119915008C>T
NM_012281.2:c.322C>T
NP_036413.1:p.Arg108Cys
NM_012281.3:c.322C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh387120,274,954 - 120,274,954CLINVAR
GRCh377119,915,008 - 119,915,008CLINVAR
Cytogenetic Map77q31.31CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14712954
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.