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Variant : CV435992 (GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3) Homo sapiens

Symbol: CV435992
Name: GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3
Condition: See cases [RCV000511325]
Clinical Significance: pathogenic
Last Evaluated: 07/14/2015
Review Status: no assertion criteria provided
Related Genes: ADAM18   ADAM28   ADAM32   ADAM7   ADAM9   ADAMDEC1   ADGRA2   ADRA1A   ADRB3   ASAH1   ASH2L   ATP6V1B2   BAG4   BIN3   BMP1   BNIP3L   BRF2   C8orf48   C8orf58   C8orf86   CCAR2   CCDC25   CDCA2   CHMP7   CHRNA2   CLU   CNOT7   CSGALNACT1   DCTN6   DDHD2   DLC1   DMTN   DOCK5   DOK2   DPYSL2   DUSP26   DUSP4   EBF2   EGR3   EIF4EBP1   ELP3   ENTPD4   EPHX2   ERLIN2   ESCO2   EXTL3   FAM160B2   FBXO16   FGF17   FGF20   FGFR1   FGL1   FUT10   FZD3   GFRA2   GNRH1   GOT1L1   GSR   GTF2E2   HMBOX1   HR   HTRA4   INTS10   INTS9   KCNU1   KCTD9   KIF13B   LEPROTL1   LETM2   LGI3   LONRF1   LOXL2   LPL   LSM1   LZTS1   MAK16   MBOAT4   MICU3   MIR320A   MSR1   MTMR7   MTUS1   NAT1   NAT2   NEFL   NEFM   NKX2-6   NKX3-1   NPM2   NRG1   NSD3   NUDT18   NUGGC   PBK   PCM1   PDGFRL   PDLIM2   PEBP4   PHYHIP   PIWIL2   PLEKHA2   PLPBP   PLPP5   PNMA2   PNOC   POLR3D   PPP2CB   PPP2R2A   PPP3CC   PSD3   PTK2B   PURG   R3HCC1   RAB11FIP1   RBPMS   REEP4   RHOBTB2   RNF122   SARAF   SCARA3   SCARA5   SFTPC   SGCZ   SH2D4A   SLC18A1   SLC25A37   SLC39A14   SLC7A2   SMIM18   SORBS3   STAR   STC1   STMN4   TACC1   TEX15   TM2D2   TNFRSF10A   TNFRSF10B   TNFRSF10C   TNFRSF10D   TRIM35   TRMT9B   TTI2   TUSC3   UBXN8   UNC5D   VPS37A   WRN   XPO7   ZDHHC2   ZNF395   ZNF703  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37812,528,482 - 39,593,802CLINVAR
Cytogenetic Map88p23.1-11.22CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13444298
Created: 2017-11-07
Species: Homo sapiens
Last Modified: 2020-03-24
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.