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Variant : CV71716 (GRCh38/hg38 13q34(chr13:114192458-114293545)x3) Homo sapiens

Symbol: CV71716
Name: GRCh38/hg38 13q34(chr13:114192458-114293545)x3
Condition: Seizure [RCV000050755]|See cases [RCV000050755]
Clinical Significance: uncertain significance
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: CDC16   CFAP97D2   MIR4502   MIR548AR   UPF3A  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000013.11:g.(?_114192458)_(114293545_?)dup
NC_000013.10:g.(?_114957933)_(115059020_?)dup
NC_000013.9:g.(?_113976035)_(114077122_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3813114,192,458 - 114,293,545CLINVAR
GRCh3713114,957,933 - 115,059,020CLINVAR
Build 3613113,976,035 - 114,077,122CLINVAR
Cytogenetic Map1313q34CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8617835
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-14
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.