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Variant : CV72026 (GRCh38/hg38 10p15.3-14(chr10:90421-6769994)x3) Homo sapiens

Symbol: CV72026
Name: GRCh38/hg38 10p15.3-14(chr10:90421-6769994)x3
Condition: See cases [RCV000051132]
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   ADARB2   ADARB2-AS1   AKR1C1   AKR1C2   AKR1C3   AKR1C4   AKR1E2   AL358216.1   AL359878.2   ANKRD16   ASB13   CALML3   CALML3-AS1   CALML5   DIP2C   DIP2C-AS1   FBH1   GDI2   GTPBP4   IDI1   IDI2   IDI2-AS1   IL15RA   IL2RA   KLF6   LARP4B   LASTR   LINC00200   LINC00700   LINC00701   LINC00702   LINC00703   LINC00705   LINC02561   LINC02639   LINC02645   LINC02648   LINC02649   LINC02656   LINC02660   LINC02662   LINC02668   LINC02669   LINC02677   LINC02678   LINP1   LOC105376353   LOC105376360   LOC106783507   LOC108348022   LOC110121449   LOC110121467   LOC111589206   LOC111818965   LOC111832674   LOC111946234   LOC111946236   LOC111946241   LOC111946242   LOC111946245   LOC111946246   LOC116216105   LOC116216106   LOC116216107   LOC116216108   LOC116216109   LOC116216110   LOC116216111   MANCR   MIR3155A   MIR3155B   MIR5699   MIR6072   MIR6078   NET1   PFKFB3   PFKP   PFKP-DT   PITRM1   PITRM1-AS1   PRKCQ   PRKCQ-AS1   RBM17   SNORD142   TASOR2   TRV-TAC3-1   TUBAL3   UCN3   WDR37   ZMYND11  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000010.10:g.(?_224406)_(6811956_?)dup
NC_000010.9:g.(?_126361)_(6851962_?)dup
NC_000010.11:g.(?_90421)_(6769994_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381090,421 - 6,769,994CLINVAR
GRCh3710224,406 - 6,811,956CLINVAR
Build 3610126,361 - 6,851,962CLINVAR
Cytogenetic Map1010p15.3-14CLINVAR
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: 8618174
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-11-24
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.