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Variant : CV154753 (GRCh38/hg38 11q23.3-24.2(chr11:120426093-124771213)x1) Homo sapiens

Symbol: CV154753
Name: GRCh38/hg38 11q23.3-24.2(chr11:120426093-124771213)x1
Condition: See cases [RCV000134405]
Clinical Significance: pathogenic
Last Evaluated: 11/30/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AP000866.2   AP004147.1   ARHGEF12   BLID   BSX   CLMP   CRTAM   ESAM   GRAMD1B   GRIK4   HSPA8   JHY   LINC02727   MIR100   MIR100HG   MIR10526   MIR125B1   MIR4493   MIRLET7A2   MSANTD2   NRGN   OR10D3   OR10G4   OR10G6   OR10G7   OR10G8   OR10G9   OR10S1   OR4D5   OR6M1   OR6T1   OR6X1   OR8A1   OR8B12   OR8B2   OR8B3   OR8B4   OR8B8   OR8D1   OR8D2   OR8D4   OR8G1   OR8G2P   OR8G5   PANX3   SC5D   SCN3B   SIAE   SNORD14C   SNORD14D   SNORD14E   SORL1   SPA17   TBCEL   TBCEL-TECTA   TBRG1   TECTA   TMEM225   TRK-TTT2-1   UBASH3B   VSIG2   VWA5A   ZNF202  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000011.10:g.(?_120426093)_(124771213_?)del
Human AssemblyChrPosition (strand)Source
GRCh3811120,426,093 - 124,771,213CLINVAR
GRCh3711120,296,802 - 124,641,109CLINVAR
Build 3611119,802,012 - 124,146,319CLINVAR
Cytogenetic Map1111q23.3-24.2CLINVAR

Additional Information

External Database Links
RGD Object Information
RGD ID: 9481985
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.