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Variant : CV74253 (GRCh38/hg38 10p15.3-12.2(chr10:90221-22567425)x3) Homo sapiens

Symbol: CV74253
Name: GRCh38/hg38 10p15.3-12.2(chr10:90221-22567425)x3
Condition: See cases [RCV000053508]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AC025822.2   ACBD7   ACBD7-DCLRE1CP1   ADARB2   ADARB2-AS1   AKR1C1   AKR1C2   AKR1C3   AKR1C4   AKR1E2   AL157895.1   AL358216.1   AL359878.2   ANKRD16   ARL5B   ASB13   ATP5F1C   BEND7   BMI1   C1QL3   CACNB2   CALML3   CALML3-AS1   CALML5   CAMK1D   CCDC3   CDC123   CDNF   CELF2   CELF2-AS1   CELF2-AS2   CELF2-DT   COMMD3   COMMD3-BMI1   CUBN   DCLRE1C   DHTKD1   DIP2C   DIP2C-AS1   DNAJC1   EBLN1   ECHDC3   FAM107B   FAM171A1   FBH1   FRMD4A   GATA3   GATA3-AS1   GDI2   GTPBP4   HACD1   HSPA14   HSPA14   IDI1   IDI2   IDI2-AS1   IL15RA   IL2RA   ITGA8   ITIH2   ITIH5   KIN   KLF6   LARP4B   LASTR   LINC00200   LINC00700   LINC00701   LINC00702   LINC00703   LINC00705   LINC00706   LINC00707   LINC00708   LINC00709   LINC00710   LINC02561   LINC02639   LINC02642   LINC02643   LINC02645   LINC02648   LINC02649   LINC02654   LINC02656   LINC02660   LINC02662   LINC02665   LINC02668   LINC02669   LINC02670   LINC02676   LINC02677   LINC02678   LINP1   LOC100130992   LOC100499489   LOC101928272   LOC101928453   LOC105376353   LOC105376360   LOC105376398   LOC106783505   LOC106783507   LOC106783576   LOC107275222   LOC107275223   LOC107275226   LOC108348022   LOC108353819   LOC108903148   LOC108903149   LOC110121355   LOC110121449   LOC110121467   LOC111501766   LOC111589206   LOC111589212   LOC111818965   LOC111832674   LOC111946222   LOC111946223   LOC111946224   LOC111946225   LOC111946226   LOC111946227   LOC111946228   LOC111946229   LOC111946230   LOC111946234   LOC111946236   LOC111946241   LOC111946242   LOC111946245   LOC111946246   LOC111946251   LOC111946252   LOC116216105   LOC116216106   LOC116216107   LOC116216108   LOC116216109   LOC116216110   LOC116216111   LOC116216112   MALRD1   MANCR   MCM10   MEIG1   MINDY3   MIR1265   MIR1915   MIR1915HG   MIR3155A   MIR3155B   MIR4293   MIR4480   MIR4481   MIR4675   MIR511   MIR548AK   MIR548Q   MIR5699   MIR6072   MIR6078   MLLT10   MRC1   NEBL   NEBL-AS1   NET1   NMT2   NSUN6   NUDT5   OLAH   OPTN   PFKFB3   PFKP   PFKP-DT   PHYH   PIP4K2A   PITRM1   PITRM1-AS1   PLXDC2   PRKCQ   PRKCQ-AS1   PROSER2   PROSER2-AS1   PRPF18   PTER   RBM17   RPP38   RPP38-DT   RSU1   SEC61A2   SEPHS1   SFMBT2   SKIDA1   SLC39A12   SLC39A12-AS1   SNORD129   SNORD142   SPAG6   ST8SIA6   ST8SIA6-AS1   STAM   STAM-AS1   SUV39H2   TAF3   TASOR2   TMEM236   TRDMT1   TRN-GTT2-3   TRV-TAC3-1   TUBAL3   UCMA   UCN3   UPF2   USP6NL   USP6NL-AS1   VIM   VIM-AS1   WDR37   ZMYND11  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000010.11:g.(?_90221)_(22567425_?)dup
Human AssemblyChrPosition (strand)Source
GRCh381090,221 - 22,567,425CLINVAR
GRCh3710224,406 - 22,856,354CLINVAR
Build 3610126,161 - 22,896,360CLINVAR
Cytogenetic Map1010p15.3-12.2CLINVAR
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
CRRD Object Information
CRRD ID: 8620439
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-11-17
Status: ACTIVE


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