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Variant : CV592295 (GRCh37/hg19 11q14.1-23.2(chr11:80053454-113316236)x1) Homo sapiens

Symbol: CV592295
Name: GRCh37/hg19 11q14.1-23.2(chr11:80053454-113316236)x1
Condition: not provided [RCV000737595]
Clinical Significance: pathogenic
Last Evaluated: 11/18/2011
Review Status: no assertion criteria provided
Related Genes: AASDHPPT   ACAT1   ALG9   ALKBH8   AMOTL1   ANGPTL5   ANKK1   ANKRD42   ANKRD49   ARHGAP20   ARHGAP42   ATM   BCO2   BIRC2   BIRC3   BTG4   C11orf1   C11orf52   C11orf53   C11orf54   C11orf65   C11orf87   C11orf88   CARD16   CARD17   CARD18   CASP1   CASP12   CASP4   CASP5   CCDC81   CCDC82   CCDC83   CCDC89   CCDC90B   CEP126   CEP295   CEP57   CFAP300   CHORDC1   CNTN5   COLCA2   CREBZF   CRYAB   CTSC   CUL5   CWC15   CWF19L2   DCUN1D5   DDI1   DDIAS   DDX10   DEUP1   DIXDC1   DLAT   DLG2   DRD2   DYNC2H1   EED   ELMOD1   ENDOD1   EXPH5   FAM181B   FAM76B   FAT3   FDX1   FDXACB1   FOLH1B   FUT4   FZD4   GPR83   GRIA4   GRM5   GUCY1A2   HEPHL1   HIKESHI   HSPB2   IL18   IZUMO1R   JRKL   KBTBD3   KDM4D   KDM4E   LAYN   MAML2   ME3   MED17   MIR34B   MIR34C   MMP1   MMP10   MMP12   MMP13   MMP20   MMP27   MMP3   MMP7   MMP8   MRE11   MSANTD4   MTMR2   MTNR1B   NAALAD2   NCAM1   NKAPD1   NOX4   NPAT   PANX1   PCF11   PDGFD   PGR   PICALM   PIH1D2   PIWIL4   PLET1   POGLUT3   POU2AF1   PPP2R1B   PRCP   PRSS23   PTS   RAB30   RAB38   RAB39A   RDX   SDHD   SESN3   SIK2   SLC35F2   SLC36A4   SLN   SMCO4   SRSF8   SYTL2   TAF1D   TEX12   TIMM8B   TMEM123   TMEM126A   TMEM126B   TMEM135   TRIM49   TRIM49C   TRIM49D1   TRIM49D2   TRIM64   TRIM64B   TRIM77   TRPC6   TTC12   TYR   UBTFL1   VSTM5   YAP1   ZC3H12C  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371180,053,454 - 113,316,236CLINVAR
Cytogenetic Map1111q14.1-23.2CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 14352962
Created: 2019-02-12
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.