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Variant : CV651702 (NM_012281.3(KCND2):c.1279-2A>G) Homo sapiens

Symbol: CV651702
Name: NM_012281.3(KCND2):c.1279-2A>G
Condition: Early myoclonic encephalopathy [RCV000812932]
Clinical Significance: uncertain significance
Last Evaluated: 10/16/2018
Review Status: criteria provided, single submitter
Related Genes: KCND2  
Variant Type: single nucleotide variant (SO:0001574)
Source: CLINVAR
Molecular Consequence: splice acceptor variant
Evidence: clinical testing
HGVS Name(s): NM_012281.3:c.1279-2A>G
NG_034230.1:g.472865A>G
NC_000007.14:g.120741532A>G
NC_000007.13:g.120381586A>G
NM_012281.2:c.1279-2A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh387120,741,532 - 120,741,532CLINVAR
GRCh377120,381,586 - 120,381,586CLINVAR
Cytogenetic Map77q31.31CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14709784
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.