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Variant : CV675109 (GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1) Homo sapiens

Symbol: CV675109
Name: GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1
Condition: not provided [RCV000848216]
Clinical Significance: pathogenic
Last Evaluated: 07/05/2018
Review Status: no assertion criteria provided
Related Genes: ABCB11   AGPS   ANKAR   ASNSD1   ATF2   ATP5MC3   B3GALT1   BBS5   C2orf88   CALCRL   CAVIN2   CCDC141   CCDC173   CDCA7   CERKL   CERS6   CHN1   CHRNA1   CIR1   COL3A1   COL5A2   CWC22   CYBRD1   DCAF17   DHRS9   DIRC1   DLX1   DLX2   DNAJC10   DUSP19   DYNC1I2   ERICH2   EVX2   FAM171B   FASTKD1   FKBP7   FRZB   FSIP2   G6PC2   GAD1   GLS   GORASP2   GPR155   GULP1   HAT1   HIBCH   HNRNPA3   HOXD1   HOXD10   HOXD11   HOXD12   HOXD13   HOXD3   HOXD4   HOXD8   HOXD9   INPP1   ITGA4   ITGA6   ITGAV   ITPRID2   KLHL23   KLHL41   LNPK   LRP2   MAP3K20   METAP1D   METTL5   METTL8   MFSD6   MIR10B   MIR1258   MSTN   MTX2   MYO1B   MYO3B   NAB1   NABP1   NCKAP1   NEMP2   NEUROD1   NFE2L2   NOSTRIN   NUP35   OLA1   ORMDL1   OSBPL6   OSGEPL1   PDE11A   PDE1A   PDK1   PHOSPHO2   PJVK   PLEKHA3   PMS1   PPIG   PPP1R1C   PRKRA   RAPGEF4   RBM45   SCN7A   SCRN3   SESTD1   SLC25A12   SLC40A1   SP3   SP5   SP9   SPC25   SSB   STAT1   STAT4   STK39   TFPI   TLK1   TTC30A   TTC30B   TTN   UBE2E3   UBR3   WDR75   WIPF1   XIRP2   ZC3H15   ZNF385B   ZNF804A   ZSWIM2  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh372167,329,586 - 192,756,373CLINVAR
Cytogenetic Map22q24.3-32.3CLINVAR

Additional Information

External Database Links
RGD Object Information
RGD ID: 14979776
Created: 2019-10-08
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.