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Variant : CV247840 (GRCh37/hg19 8p23.1-21.2(chr8:12580132-26774307)x3) Homo sapiens

Symbol: CV247840
Name: GRCh37/hg19 8p23.1-21.2(chr8:12580132-26774307)x3
Condition: See cases [RCV000239945]
Clinical Significance: pathogenic
Last Evaluated: 01/20/2016
Review Status: criteria provided, single submitter
Related Genes: AC124242.1   ADAM28   ADAM7   ADAMDEC1   ADRA1A   ASAH1   ATP6V1B2   BIN3   BMP1   BNIP3L   C8orf48   C8orf58   CCAR2   CDCA2   CHMP7   CNOT7   CSGALNACT1   DLC1   DMTN   DOCK5   DOK2   DPYSL2   EBF2   EGR3   ENTPD4   FAM160B2   FGF17   FGF20   FGL1   GFRA2   GNRH1   HR   INTS10   KCTD9   LGI3   LONRF1   LOXL2   LPL   LZTS1   MICU3   MIR320A   MSR1   MTMR7   MTUS1   NAT1   NAT2   NEFL   NEFM   NKX2-6   NKX3-1   NPM2   NUDT18   PCM1   PDGFRL   PDLIM2   PEBP4   PHYHIP   PIWIL2   PNMA2   POLR3D   PPP2R2A   PPP3CC   PSD3   R3HCC1   REEP4   RHOBTB2   SFTPC   SGCZ   SH2D4A   SLC18A1   SLC25A37   SLC39A14   SLC7A2   SORBS3   STC1   TNFRSF10A   TNFRSF10B   TNFRSF10C   TNFRSF10D   TRMT9B   TUSC3   VPS37A   XPO7   ZDHHC2  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37812,580,132 - 26,774,307CLINVAR
Cytogenetic Map88p23.1-21.2CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11541426
Created: 2016-10-11
Species: Homo sapiens
Last Modified: 2020-10-20
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.