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Variant : CV74352 (GRCh38/hg38 11q13.2(chr11:66193502-67890770)x3) Homo sapiens

Symbol: CV74352
Name: GRCh38/hg38 11q13.2(chr11:66193502-67890770)x3
Condition: See cases [RCV000053623]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ACTN3   ACY3   AIP   ALDH3B2   ANKRD13D   AP001107.9   AP002748.4   B4GAT1   BBS1   BRMS1   C11orf72   C11orf80   C11orf86   CABP2   CABP4   CARNS1   CCDC87   CCS   CD248   CDK2AP2   CLCF1   CNIH2   CORO1B   CTSF   DPP3   FRA11A   GPR152   GRK2   GSTP1   KDM2A   KLC2   LINC02754   LRFN4   MIR3163   MIR6752   MIR6860   MRPL11   NDUFV1   NPAS4   NUDT8   PACS1   PC   PELI3   PITPNM1   POLD4   PPP1CA   PTPRCAP   RAB1B   RAD9A   RBM14   RBM14-RBM4   RBM4   RBM4B   RCE1   RHOD   RIN1   RPS6KB2   SLC29A2   SPTBN2   SSH3   SYT12   TBC1D10C   TBX10   TMEM134   TMEM151A   TRS-GCT3-1   YIF1A   ZDHHC24  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000011.10:g.(?_66193502)_(67890770_?)dup
NC_000011.9:g.(?_65960973)_(67658241_?)dup
NC_000011.8:g.(?_65717549)_(67414817_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381166,193,502 - 67,890,770CLINVAR
GRCh371165,960,973 - 67,658,241CLINVAR
Build 361165,717,549 - 67,414,817CLINVAR
Cytogenetic Map1111q13.2CLINVAR
Prevalence: mental retardation is caused by aberrant copy numbers of subtelomeric regions in 3-8% of all cases.



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8620542
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-07-28
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.