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Variant : CV74374 (GRCh38/hg38 11q24.1-25(chr11:123753493-134998513)x3) Homo sapiens

Symbol: CV74374
Name: GRCh38/hg38 11q24.1-25(chr11:123753493-134998513)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053645]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053645]|See cases [RCV000053645]
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   APLP2   ARHGAP32   B3GAT1   BARX2   C11orf45   CCDC15   CDON   CHEK1   DCPS   DDX25   EI24   ESAM   ETS1   FAM118B   FEZ1   FLI1   FOXRED1   GLB1L2   GLB1L3   GSEC   HEPACAM   HEPN1   HYLS1   IGSF9B   JAM3   KCNJ1   KCNJ5   KIRREL3   KIRREL3-AS2   KIRREL3-AS3   LINC00167   LINC01395   LINC02098   LINC02551   LINC02873   LOC403312   MIR3167   MIR4697   MIR6090   MIR8052   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   PRDM10   PUS3   ROBO3   ROBO4   RPUSD4   SENCR   SIAE   SLC37A2   SNX19   SPA17   SPATA19   SRPRA   ST14   ST3GAL4   STT3A   STT3A-AS1   TBRG1   THYN1   TIRAP   TMEM218   TMEM225   TMEM45B   TP53AIP1   VPS26B   VSIG10L2   VSIG2   VWA5A   ZBTB44   ZNF123P  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000011.10:g.(?_123753493)_(134998513_?)dup
Human AssemblyChrPosition (strand)Source
GRCh3811123,753,493 - 134,998,513CLINVAR
GRCh3711123,624,201 - 134,868,407CLINVAR
Build 3611123,129,411 - 134,373,617CLINVAR
Cytogenetic Map1111q24.1-25CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability

Additional Information

RGD Object Information
RGD ID: 8620564
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2017-10-31
Status: ACTIVE


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