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Variant : CV74372 (GRCh38/hg38 11q23.3-25(chr11:120236432-135040246)x3) Homo sapiens

Symbol: CV74372
Name: GRCh38/hg38 11q23.3-25(chr11:120236432-135040246)x3
Condition: See cases [RCV000053643]
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   ACRV1   ADAMTS15   ADAMTS8   AP000866.1   AP000866.2   AP001122.1   AP001150.1   AP001783.1   AP001993.1   AP003025.1   AP004147.1   APLP2   ARHGAP32   ARHGEF12   B3GAT1   B3GAT1-DT   BARX2   BLID   BSX   C11orf45   CCDC15   CDON   CHEK1   CLMP   CRTAM   DCPS   DDX25   EI24   ESAM   ETS1   ETS1-AS1   FAM118B   FEZ1   FLI1   FOXRED1   GLB1L2   GLB1L3   GRAMD1B   GRIK4   GSEC   HEPACAM   HEPN1   HSPA8   HYLS1   IGSF9B   JAM3   JHY   KCNJ1   KCNJ5   KIRREL3   KIRREL3-AS2   KIRREL3-AS3   LINC00167   LINC01395   LINC02098   LINC02551   LINC02697   LINC02706   LINC02712   LINC02714   LINC02725   LINC02727   LINC02731   LINC02743   LINC02873   LOC403312   MIR100   MIR100HG   MIR10526   MIR125B1   MIR3167   MIR4493   MIR4697   MIR6090   MIR8052   MIRLET7A2   MSANTD2   NCAPD3   NFRKB   NRGN   NTM   NTM-AS1   NTM-IT   OPCML   OR10D3   OR10G4   OR10G6   OR10G7   OR10G8   OR10G9   OR10S1   OR4D5   OR6M1   OR6T1   OR6X1   OR8A1   OR8B12   OR8B2   OR8B3   OR8B4   OR8B8   OR8D1   OR8D2   OR8D4   OR8G1   OR8G2P   OR8G5   PANX3   PATE1   PATE2   PATE3   PATE4   PKNOX2   PKNOX2-AS1   POU2F3   PRDM10   PUS3   ROBO3   ROBO4   RPUSD4   SC5D   SCN3B   SENCR   SIAE   SLC37A2   SNORD14C   SNORD14D   SNORD14E   SNORD153   SNX19   SORL1   SPA17   SPATA19   SRPRA   ST14   ST3GAL4   STT3A   STT3A-AS1   TBCEL   TBCEL-TECTA   TBRG1   TECTA   THYN1   TIRAP   TLCD5   TMEM218   TMEM225   TMEM45B   TP53AIP1   TRK-TTT2-1   UBASH3B   VPS26B   VSIG10L2   VSIG2   VWA5A   ZBTB44   ZBTB44-DT   ZNF202  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000011.10:g.(?_120236432)_(135040246_?)dup
Human AssemblyChrPosition (strand)Source
GRCh3811120,236,432 - 135,040,246CLINVAR
GRCh3711120,107,141 - 134,910,140CLINVAR
Build 3611119,612,351 - 134,415,350CLINVAR
Cytogenetic Map1111q23.3-25CLINVAR
Prevalence: mental retardation is caused by aberrant copy numbers of subtelomeric regions in 3-8% of all cases.

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 8620562
Created: 2014-05-13
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.