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Variant : CV382613 (GRCh37/hg19 8p22-21.2(chr8:13091530-24483615)) Homo sapiens

Symbol: CV382613
Name: GRCh37/hg19 8p22-21.2(chr8:13091530-24483615)
Condition: See cases [RCV000447428]
Clinical Significance: pathogenic
Last Evaluated: 04/30/2011
Review Status: no assertion criteria provided
Related Genes: AC124242.1   ADAM28   ADAM7   ADAMDEC1   ASAH1   ATP6V1B2   BIN3   BMP1   C8orf48   C8orf58   CCAR2   CHMP7   CNOT7   CSGALNACT1   DLC1   DMTN   DOK2   EGR3   ENTPD4   FAM160B2   FGF17   FGF20   FGL1   GFRA2   HR   INTS10   LGI3   LOXL2   LPL   LZTS1   MICU3   MIR320A   MSR1   MTMR7   MTUS1   NAT1   NAT2   NKX2-6   NKX3-1   NPM2   NUDT18   PCM1   PDGFRL   PDLIM2   PEBP4   PHYHIP   PIWIL2   POLR3D   PPP3CC   PSD3   R3HCC1   REEP4   RHOBTB2   SFTPC   SGCZ   SH2D4A   SLC18A1   SLC25A37   SLC39A14   SLC7A2   SORBS3   STC1   TNFRSF10A   TNFRSF10B   TNFRSF10C   TNFRSF10D   TUSC3   VPS37A   XPO7   ZDHHC2  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh37813,091,530 - 24,483,615CLINVAR
Cytogenetic Map88p22-21.2CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 12852145
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2020-06-30
Status: ACTIVE


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