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Variant : CV554737 (GRCh37/hg19 8p23.3-21.2(chr8:1825200-24533193)x3) Homo sapiens

Symbol: CV554737
Name: GRCh37/hg19 8p23.3-21.2(chr8:1825200-24533193)x3
Condition: not provided [RCV000683042]
Clinical Significance: pathogenic
Last Evaluated: 08/04/2017
Review Status: no assertion criteria provided
Related Genes: ADAM28   ADAM7   ADAMDEC1   AGPAT5   ANGPT2   ARHGEF10   ASAH1   ATP6V1B2   BIN3   BLK   BMP1   C8orf48   C8orf58   C8orf74   CCAR2   CHMP7   CLDN23   CNOT7   CSGALNACT1   CSMD1   CTSB   DEFA1   DEFA1B   DEFA3   DEFA4   DEFA5   DEFA6   DEFB1   DEFB103A   DEFB103B   DEFB104A   DEFB104B   DEFB105A   DEFB105B   DEFB106A   DEFB106B   DEFB107A   DEFB107B   DEFB130A   DEFB134   DEFB135   DEFB136   DEFB4A   DEFB4B   DLC1   DMTN   DOK2   EGR3   ENTPD4   ERI1   FAM160B2   FAM167A   FAM86B1   FAM86B2   FDFT1   FGF17   FGF20   FGL1   GATA4   GFRA2   HR   INTS10   KBTBD11   LGI3   LONRF1   LOXL2   LPL   LZTS1   MCPH1   MFHAS1   MICU3   MIR124-1   MIR320A   MSR1   MSRA   MTMR7   MTMR9   MTUS1   MYOM2   NAT1   NAT2   NEIL2   NKX2-6   NKX3-1   NPM2   NUDT18   PCM1   PDGFRL   PDLIM2   PEBP4   PHYHIP   PINX1   PIWIL2   POLR3D   PPP1R3B   PPP3CC   PRSS51   PRSS55   PSD3   R3HCC1   REEP4   RHOBTB2   RP1L1   SFTPC   SGCZ   SH2D4A   SLC18A1   SLC25A37   SLC35G5   SLC39A14   SLC7A2   SORBS3   SOX7   SPAG11A   SPAG11B   STC1   TNFRSF10A   TNFRSF10B   TNFRSF10C   TNFRSF10D   TNKS   TRMT9B   TUSC3   USP17L1   USP17L2   USP17L3   USP17L4   USP17L7   USP17L8   VPS37A   XKR5   XKR6   XPO7   ZDHHC2   ZNF705B   ZNF705D   ZNF705G  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh3781,825,200 - 24,533,193CLINVAR
Cytogenetic Map88p23.3-21.2CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13795943
Created: 2018-10-09
Species: Homo sapiens
Last Modified: 2020-03-17
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.