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Variant : CV622842 (dup(11)(q13.1q13.1)) Homo sapiens

Symbol: CV622842
Name: dup(11)(q13.1q13.1)
Condition: Ependymoma [RCV000785872]
Clinical Significance: likely pathogenic
Last Evaluated: 05/21/2019
Review Status: no assertion criteria provided
Related Genes: ARL2   ATG2A   BAD   BATF2   C11orf95   CAPN1   CATSPERZ   CCDC88B   CDC42BPG   CDC42EP2   CDCA5   COX8A   DNAJC4   DPF2   EHBP1L1   EHD1   ESRRA   FAM89B   FAU   FERMT3   FKBP2   FLRT1   FRMD8   GPHA2   GPR137   KCNK4   KCNK7   LTBP3   MACROD1   MAJIN   MALAT1   MAP3K11   MAP4K2   MARK2   MEN1   MIR192   MIR194-2   MRPL49   NAA40   NAALADL1   NEAT1   NRXN2   NUDT22   OTUB1   PCNX3   PLCB3   POLA2   PPP1R14B   PPP2R5B   PRDX5   PYGM   RASGRP2   RCOR2   RELA   RPS6KA4   SAC3D1   SCYL1   SF1   SIPA1   SLC22A11   SLC22A12   SLC25A45   SNX15   SPDYC   SPINDOC   STIP1   SYVN1   TIGD3   TM7SF2   TRMT112   TRPT1   VEGFB   VPS51   ZFPL1   ZNHIT2   ZNRD2  
Variant Type: duplication (SO:1000035)
Source: CLINVAR
Evidence: research
Position
Human AssemblyChrPosition (strand)Source
GRCh371163,533,279 - 65,429,676CLINVAR
Cytogenetic Map1111q13.1CLINVAR
Trait Synonyms: Cellular ependymoma (histologic variant); Clear cell ependymoma (histologic variant); Ependymoma, familial; Papillary ependymoma (histologic variant); Tanycytic ependymoma (histologic variant)



Disease Annotations

Additional Information

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RGD Object Information
RGD ID: 14695619
Created: 2019-07-09
Species: Homo sapiens
Last Modified: 2020-10-15
Status: ACTIVE



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