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Variant : CV625920 (GRCh37/hg19 11q23.3-25(chr11:120576984-134934063)x1) Homo sapiens

Symbol: CV625920
Name: GRCh37/hg19 11q23.3-25(chr11:120576984-134934063)x1
Condition: See cases [RCV000790567]
Clinical Significance: pathogenic
Last Evaluated: 07/12/2018
Review Status: criteria provided, single submitter
Related Genes: ACAD8   ACRV1   ADAMTS15   ADAMTS8   AP001993.1   APLP2   ARHGAP32   B3GAT1   BARX2   BLID   BSX   C11orf45   CCDC15   CDON   CHEK1   CLMP   CRTAM   DCPS   DDX25   EI24   ESAM   ETS1   FAM118B   FEZ1   FLI1   FOXRED1   GLB1L2   GLB1L3   GRAMD1B   GRIK4   HEPACAM   HEPN1   HSPA8   HYLS1   IGSF9B   JAM3   JHY   KCNJ1   KCNJ5   KIRREL3   LINC02714   LINC02743   LINC02873   MIR100   MIR125B1   MIRLET7A2   MSANTD2   NCAPD3   NFRKB   NRGN   NTM   OPCML   OR10G4   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   PRDM10   PUS3   ROBO3   ROBO4   RPUSD4   SC5D   SCN3B   SIAE   SLC37A2   SNX19   SORL1   SPA17   SPATA19   SRPRA   ST14   ST3GAL4   STT3A   TBCEL   TBRG1   TECTA   THYN1   TIRAP   TMEM218   TMEM225   TMEM45B   TP53AIP1   UBASH3B   VPS26B   VSIG2   VWA5A   ZBTB44   ZNF202  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh3711120,576,984 - 134,934,063CLINVAR
Cytogenetic Map1111q23.3-25CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 14697825
Created: 2019-08-06
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.