Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV435499 (GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1) Homo sapiens

Symbol: CV435499
Name: GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1
Condition: See cases [RCV000510457]
Clinical Significance: pathogenic
Last Evaluated: 02/24/2015
Review Status: no assertion criteria provided
Related Genes: AASDHPPT   ACAT1   ALKBH8   AMOTL1   ANGPTL5   ANKRD49   ARHGAP42   ATM   BIRC2   BIRC3   C11orf54   C11orf65   C11orf87   CARD16   CARD17   CARD18   CASP1   CASP12   CASP4   CASP5   CCDC82   CEP126   CEP295   CEP57   CFAP300   CHORDC1   CNTN5   CUL5   CWC15   CWF19L2   DCUN1D5   DDI1   DDX10   DEUP1   DYNC2H1   ELMOD1   ENDOD1   EXPH5   FAM76B   FAT3   FOLH1B   FUT4   GPR83   GRIA4   GRM5   GUCY1A2   HEPHL1   IZUMO1R   JRKL   KBTBD3   KDM4D   KDM4E   MAML2   MED17   MMP1   MMP10   MMP12   MMP13   MMP20   MMP27   MMP3   MMP7   MMP8   MRE11   MSANTD4   MTMR2   MTNR1B   NAALAD2   NOX4   NPAT   PANX1   PDGFD   PGR   PIWIL4   POGLUT3   RAB39A   SESN3   SLC35F2   SLC36A4   SLN   SMCO4   SRSF8   TAF1D   TMEM123   TRIM49   TRIM49C   TRIM49D1   TRIM49D2   TRIM64   TRIM64B   TRIM77   TRPC6   TYR   UBTFL1   VSTM5   YAP1  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh371188,152,458 - 109,414,650CLINVAR
Cytogenetic Map1111q14.2-22.3CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 13443436
Created: 2017-11-07
Species: Homo sapiens
Last Modified: 2019-10-08
Status: ACTIVE


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