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Variant : CV72051 (GRCh38/hg38 11q24.2-25(chr11:126445805-134998513)x3) Homo sapiens

Symbol: CV72051
Name: GRCh38/hg38 11q24.2-25(chr11:126445805-134998513)x3
Condition: See cases [RCV000051162]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ACAD8   ADAMTS15   ADAMTS8   AP001122.1   AP001783.1   AP001993.1   AP003025.1   APLP2   ARHGAP32   B3GAT1   B3GAT1-DT   BARX2   C11orf45   ETS1   ETS1-AS1   FLI1   GLB1L2   GLB1L3   IGSF9B   JAM3   KCNJ1   KCNJ5   KIRREL3   KIRREL3-AS2   KIRREL3-AS3   LINC00167   LINC01395   LINC02098   LINC02551   LINC02697   LINC02706   LINC02712   LINC02714   LINC02725   LINC02731   LINC02743   LINC02873   MIR3167   MIR4697   MIR6090   MIR8052   NCAPD3   NFRKB   NTM   NTM-AS1   NTM-IT   OPCML   PRDM10   SENCR   SNORD153   SNX19   SPATA19   ST14   THYN1   TMEM45B   TP53AIP1   VPS26B   ZBTB44   ZBTB44-DT  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000011.9:g.(?_126315700)_(134868407_?)dup
NC_000011.8:g.(?_125820910)_(134373617_?)dup
NC_000011.10:g.(?_126445805)_(134998513_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3811126,445,805 - 134,998,513CLINVAR
GRCh3711126,315,700 - 134,868,407CLINVAR
Build 3611125,820,910 - 134,373,617CLINVAR
Cytogenetic Map1111q24.2-25CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8618202
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-08-04
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.