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Variant : CV458719 (NC_000009.12:g.(?_127678411)_(127690877_?)del) Homo sapiens

Symbol: CV458719
Name: NC_000009.12:g.(?_127678411)_(127690877_?)del
Condition: Early infantile epileptic encephalopathy [RCV000535848]
Clinical Significance: likely pathogenic
Last Evaluated: 03/10/2017
Review Status: criteria provided, single submitter
Related Genes: MIR3911   STXBP1  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000009.11:g.(?_130440690)_(130453156_?)del
NC_000009.12:g.(?_127678411)_(127690877_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh389127,678,411 - 127,690,877CLINVAR
GRCh379130,440,690 - 130,453,156CLINVAR
Cytogenetic Map99q34.11CLINVAR
Trait Synonyms: Ohtahara syndrome



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13493678
Created: 2018-01-09
Species: Homo sapiens
Last Modified: 2020-07-28
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.