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Variant : CV164568 (GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1) Homo sapiens

Symbol: CV164568
Name: GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1
Condition: See cases [RCV000142881]
Clinical Significance: pathogenic
Last Evaluated: 10/24/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ACTN3   ACY3   AIP   ALDH3B2   ANKRD13D   AP001107.9   AP002748.4   AP5B1   B4GAT1   BANF1   BBS1   BRMS1   C11orf68   C11orf72   C11orf80   C11orf86   CABP2   CABP4   CARNS1   CATSPER1   CCDC85B   CCDC87   CCS   CD248   CDK2AP2   CFL1   CLCF1   CNIH2   CORO1B   CST6   CTSF   CTSW   DPP3   DRAP1   EFEMP2   EIF1AD   FIBP   FOSL1   FRA11A   GAL3ST3   GPR152   GRK2   GSTP1   KDM2A   KLC2   LRFN4   MIR3163   MIR6752   MIR6860   MRPL11   MUS81   NDUFV1   NPAS4   NUDT8   OVOL1   OVOL1-AS1   PACS1   PC   PELI3   PITPNM1   POLD4   PPP1CA   PTPRCAP   RAB1B   RAD9A   RBM14   RBM14-RBM4   RBM4   RBM4B   RCE1   RHOD   RIN1   RPS6KB2   SART1   SF3B2   SLC29A2   SNORD13F   SNX32   SPTBN2   SSH3   SYT12   TBC1D10C   TBX10   TMEM134   TMEM151A   TRS-GCT3-1   TSGA10IP   YIF1A   ZDHHC24  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000011.10:g.(?_65741431)_(67705669_?)del
Human AssemblyChrPosition (strand)Source
GRCh381165,741,431 - 67,705,669CLINVAR
GRCh371165,508,902 - 67,473,140CLINVAR
Build 361165,265,478 - 67,229,716CLINVAR
Cytogenetic Map1111q13.1-13.2CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9490479
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-07-28
Status: ACTIVE


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