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Variant : CV595354 (GRCh37/hg19 2q23.3-31.2(chr2:152409978-179325736)x3) Homo sapiens

Symbol: CV595354
Name: GRCh37/hg19 2q23.3-31.2(chr2:152409978-179325736)x3
Condition: not provided [RCV000740654]
Clinical Significance: pathogenic
Last Evaluated: 11/18/2014
Review Status: no assertion criteria provided
Related Genes: ABCB11   ACVR1   ACVR1C   AGPS   ARL5A   ARL6IP6   ATF2   ATP5MC3   B3GALT1   BAZ2B   BBS5   CACNB4   CCDC148   CCDC173   CD302   CDCA7   CERS6   CHN1   CHRNA1   CIR1   COBLL1   CSRNP3   CYBRD1   CYTIP   DAPL1   DCAF17   DHRS9   DLX1   DLX2   DPP4   DYNC1I2   ERICH2   ERMN   EVX2   FAP   FASTKD1   FIGN   FMNL2   G6PC2   GAD1   GALNT13   GALNT3   GALNT5   GCA   GCG   GORASP2   GPD2   GPR155   GRB14   HAT1   HNRNPA3   HOXD1   HOXD10   HOXD11   HOXD12   HOXD13   HOXD3   HOXD4   HOXD8   HOXD9   IFIH1   ITGA6   ITGB6   KCNH7   KCNJ3   KLHL23   KLHL41   LNPK   LRP2   LY75   LY75-CD302   MAP3K20   MARCHF7   METAP1D   METTL5   METTL8   MIR10B   MTX2   MYO3B   NEB   NFE2L2   NOSTRIN   NR4A2   OLA1   OSBPL6   PDE11A   PDK1   PHOSPHO2   PJVK   PKP4   PLA2R1   PPIG   PRKRA   PRPF40A   PSMD14   RAPGEF4   RBM45   RBMS1   RPRM   SCN1A   SCN2A   SCN3A   SCN7A   SCN9A   SCRN3   SLC25A12   SLC38A11   SLC4A10   SP3   SP5   SP9   SPC25   SSB   STAM2   STK39   TANC1   TANK   TBR1   TLK1   TTC21B   TTC30A   TTC30B   UBR3   UPP2   WDSUB1   WIPF1   XIRP2  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh372152,409,978 - 179,325,736CLINVAR
Cytogenetic Map22q23.3-31.2CLINVAR

Additional Information

External Database Links
RGD Object Information
RGD ID: 14356028
Created: 2019-02-12
Species: Homo sapiens
Last Modified: 2020-03-24
Status: ACTIVE


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