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Variant : CV554736 (GRCh37/hg19 8p23.1-21.2(chr8:8770948-27079636)x3) Homo sapiens

Symbol: CV554736
Name: GRCh37/hg19 8p23.1-21.2(chr8:8770948-27079636)x3
Condition: not provided [RCV000683041]
Clinical Significance: pathogenic
Last Evaluated: 04/19/2018
Review Status: no assertion criteria provided
Related Genes: ADAM28   ADAM7   ADAMDEC1   ADRA1A   ASAH1   ATP6V1B2   BIN3   BLK   BMP1   BNIP3L   C8orf48   C8orf58   C8orf74   CCAR2   CDCA2   CHMP7   CNOT7   CSGALNACT1   CTSB   DEFB130A   DEFB134   DEFB135   DEFB136   DLC1   DMTN   DOCK5   DOK2   DPYSL2   EBF2   EGR3   ENTPD4   ERI1   FAM160B2   FAM167A   FAM86B1   FAM86B2   FDFT1   FGF17   FGF20   FGL1   GATA4   GFRA2   GNRH1   HR   INTS10   KCTD9   LGI3   LONRF1   LOXL2   LPL   LZTS1   MICU3   MIR124-1   MIR320A   MSR1   MSRA   MTMR7   MTMR9   MTUS1   NAT1   NAT2   NEFL   NEFM   NEIL2   NKX2-6   NKX3-1   NPM2   NUDT18   PCM1   PDGFRL   PDLIM2   PEBP4   PHYHIP   PINX1   PIWIL2   PNMA2   POLR3D   PPP1R3B   PPP2R2A   PPP3CC   PRSS51   PRSS55   PSD3   R3HCC1   REEP4   RHOBTB2   RP1L1   SFTPC   SGCZ   SH2D4A   SLC18A1   SLC25A37   SLC35G5   SLC39A14   SLC7A2   SORBS3   SOX7   STC1   TNFRSF10A   TNFRSF10B   TNFRSF10C   TNFRSF10D   TNKS   TRMT9B   TUSC3   USP17L2   USP17L7   VPS37A   XKR6   XPO7   ZDHHC2   ZNF705D  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh3788,770,948 - 27,079,636CLINVAR
Cytogenetic Map88p23.1-21.2CLINVAR

Additional Information

External Database Links
RGD Object Information
RGD ID: 13795942
Created: 2018-10-09
Species: Homo sapiens
Last Modified: 2020-03-17
Status: ACTIVE


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