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Variant : CV555069 (GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3) Homo sapiens

Symbol: CV555069
Name: GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3
Condition: not provided [RCV000683374]
Clinical Significance: pathogenic
Last Evaluated: 03/08/2018
Review Status: no assertion criteria provided
Related Genes: AAMDC   AASDHPPT   ACAT1   ACER3   ALG8   ALG9   ALKBH8   AMOTL1   ANAPC15   ANGPTL5   ANKK1   ANKRD42   ANKRD49   APOA5   AQP11   ARAP1   ARAP1-AS2   ARHGAP20   ARHGAP42   ARHGEF17   ARRB1   ATG16L2   ATM   B3GNT6   BCO2   BIRC2   BIRC3   BTG4   BUD13   C11orf1   C11orf52   C11orf53   C11orf54   C11orf65   C11orf71   C11orf87   C11orf88   C2CD3   CADM1   CAPN5   CARD16   CARD17   CARD18   CASP1   CASP12   CASP4   CASP5   CCDC81   CCDC82   CCDC83   CCDC89   CCDC90B   CEP126   CEP295   CEP57   CFAP300   CHORDC1   CHRDL2   CLDN25   CLNS1A   CLPB   CNTN5   COA4   COLCA2   CREBZF   CRYAB   CTSC   CUL5   CWC15   CWF19L2   DCUN1D5   DDI1   DDIAS   DDX10   DEUP1   DGAT2   DIXDC1   DLAT   DLG2   DNAJB13   DRD2   DYNC2H1   EED   ELMOD1   EMSY   ENDOD1   EXPH5   FAM168A   FAM181B   FAM76B   FAT3   FCHSD2   FDX1   FDXACB1   FOLH1B   FOLR1   FOLR2   FOLR3   FUT4   FZD4   GAB2   GDPD4   GDPD5   GPR83   GRIA4   GRM5   GUCY1A2   HEPHL1   HIKESHI   HSPB2   HTR3A   HTR3B   IL18   IL18BP   INPPL1   INTS4   IZUMO1R   JRKL   KBTBD3   KCNE3   KCTD14   KCTD21   KDM4D   KDM4E   KLHL35   LAMTOR1   LAYN   LIPT2   LRRC32   LRTOMT   MAML2   MAP6   ME3   MED17   MIR139   MIR326   MIR34B   MIR34C   MMP1   MMP10   MMP12   MMP13   MMP20   MMP27   MMP3   MMP7   MMP8   MOGAT2   MRE11   MRPL48   MSANTD4   MTMR2   MTNR1B   MYO7A   NAALAD2   NARS2   NCAM1   NDUFC2   NDUFC2-KCTD14   NEU3   NKAPD1   NNMT   NOX4   NPAT   NUMA1   NXPE1   NXPE2   NXPE4   OMP   OR2AT4   P2RY2   P2RY6   P4HA3   PAAF1   PAK1   PANX1   PCF11   PDE2A   PDGFD   PGM2L1   PGR   PHOX2A   PICALM   PIH1D2   PIWIL4   PLEKHB1   PLET1   POGLUT3   POLD3   POU2AF1   PPME1   PPP2R1B   PRCP   PRSS23   PTS   RAB30   RAB38   RAB39A   RAB6A   RBM7   RDX   RELT   REXO2   RNF121   RNF169   RPS3   RSF1   SDHD   SERPINH1   SESN3   SIK2   SLC35F2   SLC36A4   SLCO2B1   SLN   SMCO4   SNORD15A   SPCS2   SRSF8   STARD10   SYTL2   TAF1D   TENM4   TEX12   THAP12   THRSP   TIMM8B   TMEM123   TMEM126A   TMEM126B   TMEM135   TMPRSS5   TPBGL   TRIM49   TRIM49C   TRIM49D1   TRIM49D2   TRIM64   TRIM64B   TRIM77   TRPC6   TSKU   TTC12   TYR   UBTFL1   UCP2   UCP3   USP28   USP35   UVRAG   VSTM5   WNT11   XRRA1   YAP1   ZBTB16   ZC3H12C   ZPR1   ZW10  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371171,588,805 - 116,680,918CLINVAR
Cytogenetic Map1111q13.4-23.3CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13796562
Created: 2018-10-09
Species: Homo sapiens
Last Modified: 2019-10-01
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.