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Variant : CV159298 (GRCh38/hg38 11q24.1-25(chr11:123963074-135075271)x1) Homo sapiens

Symbol: CV159298
Name: GRCh38/hg38 11q24.1-25(chr11:123963074-135075271)x1
Condition: See cases [RCV000138544]
Clinical Significance: pathogenic
Last Evaluated: 07/02/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ACAD8   ACRV1   ADAMTS15   ADAMTS8   AP000866.1   AP000866.2   AP001122.1   AP001783.1   AP001993.1   AP003025.1   APLP2   ARHGAP32   B3GAT1   B3GAT1-DT   BARX2   C11orf45   CCDC15   CDON   CHEK1   DCPS   DDX25   EI24   ESAM   ETS1   ETS1-AS1   FAM118B   FEZ1   FLI1   FOXRED1   GLB1L2   GLB1L3   GSEC   HEPACAM   HEPN1   HYLS1   IGSF9B   JAM3   KCNJ1   KCNJ5   KIRREL3   KIRREL3-AS2   KIRREL3-AS3   LINC00167   LINC01395   LINC02098   LINC02551   LINC02684   LINC02697   LINC02706   LINC02712   LINC02714   LINC02725   LINC02731   LINC02743   LINC02873   LOC403312   MIR3167   MIR4697   MIR6090   MIR8052   MSANTD2   NCAPD3   NFRKB   NRGN   NTM   NTM-AS1   NTM-IT   OPCML   OR10D3   OR10G4   OR10G6   OR10G7   OR10G8   OR10G9   OR10S1   OR8A1   OR8B12   OR8B2   OR8B3   OR8B4   OR8B8   OR8D1   OR8D2   OR8G1   OR8G2P   OR8G5   PANX3   PATE1   PATE2   PATE3   PATE4   PKNOX2   PKNOX2-AS1   PRDM10   PUS3   ROBO3   ROBO4   RPUSD4   SENCR   SIAE   SLC37A2   SNORD153   SNX19   SPA17   SPATA19   SRPRA   ST14   ST3GAL4   STT3A   STT3A-AS1   TBRG1   THYN1   TIRAP   TMEM218   TMEM45B   TP53AIP1   VPS26B   VSIG10L2   VSIG2   VWA5A   ZBTB44   ZBTB44-DT  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000011.10:g.(?_123963074)_(135075271_?)del
Human AssemblyChrPosition (strand)Source
GRCh3811123,963,074 - 135,075,271CLINVAR
GRCh3711123,833,781 - 134,945,165CLINVAR
Build 3611123,338,991 - 134,450,377CLINVAR
Cytogenetic Map1111q24.1-25CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9486084
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-07-28
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.