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Variant : CV72102 (GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3) Homo sapiens

Symbol: CV72102
Name: GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3
Condition: Global developmental delay [RCV000051218]|See cases [RCV000051218]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABLIM1   ABRAXAS2   ACADSB   ACSL5   ADAM12   ADAM8   ADGRA1   ADGRA1-AS1   ADRB1   AFAP1L2   ARMS2   ATE1   ATE1-AS1   ATRNL1   BAG3   BCCIP   BNIP3   BTBD16   BUB3   C10orf120   C10orf143   C10orf82   C10orf88   C10orf90   CACUL1   CALY   CASC2   CASP7   CCDC172   CCDC186   CFAP46   CHST15   CLRN3   CPXM2   CTBP2   CUZD1   CYP2E1   DCLRE1A   DENND10   DHX32   DMBT1   DOCK1   DPYSL4   EBF3   ECHS1   EDRF1   EDRF1-AS1   EDRF1-DT   EEF1AKMT2   EIF3A   EMX2   EMX2OS   ENO4   FAM160B1   FAM204A   FAM24A   FAM24B   FAM53B   FAM53B-AS1   FANK1   FANK1-AS1   FGFR2   FOXI2   FUOM   GFRA1   GLRX3   GPAM   GPR26   GRK5   GRK5-IT1   HABP2   HMX2   HMX3   HSPA12A   HTRA1   IKZF5   INPP5A   INPP5F   INSYN2A   JAKMIP3   KCNK18   KNDC1   LHPP   LINC00601   LINC00867   LINC01153   LINC01163   LINC01164   LINC01165   LINC01166   LINC01167   LINC01168   LINC01561   LINC02626   LINC02641   LINC02667   LINC02674   LINC02870   LRRC27   MCMBP   MGMT   MIR202   MIR202HG   MIR2110   MIR3663   MIR3663HG   MIR378C   MIR3941   MIR3944   MIR4295   MIR4296   MIR4297   MIR4483   MIR4484   MIR4681   MIR4682   MIR6715A   MIR6715B   MIR9851   MKI67   MMP21   MTG1   NANOS1   NHLRC2   NKX1-2   NKX6-2   NPS   NRAP   NSMCE4A   OAT   PAOX   PDZD8   PLEKHA1   PLEKHS1   PLPP4   PNLIP   PNLIPRP1   PNLIPRP2   PNLIPRP3   PPP2R2D   PRAP1   PRDX3   PRLHR   PSTK   PTPRE   PWWP2B   RAB11FIP2   RGS10   SEC23IP   SFXN4   SHTN1   SLC18A2   SNORA19   SNORA87   SNORD158   SPRN   STK32C   SYCE1   TACC2   TCERG1L   TCERG1L-AS1   TCF7L2   TDRD1   TECTB   TEX36   TEX36-AS1   TIAL1   TRUB1   TUBGCP2   UROS   UTF1   VAX1   VENTX   VTI1A   VWA2   WDR11   WDR11-AS1   ZDHHC6   ZNF511   ZRANB1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000010.11:g.(?_111313099)_(133620674_?)dup
NC_000010.10:g.(?_113072857)_(135434178_?)dup
NC_000010.9:g.(?_113062847)_(135284168_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3810111,313,099 - 133,620,674CLINVAR
GRCh3710113,072,857 - 135,434,178CLINVAR
Build 3610113,062,847 - 135,284,168CLINVAR
Cytogenetic Map1010q25.2-26.3CLINVAR
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
 
CRRD Object Information
CRRD ID: 8618257
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-02-11
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.