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Variant : CV71597 (GRCh38/hg38 22q12.1-12.3(chr22:26979579-33992220)x3) Homo sapiens

Symbol: CV71597
Name: GRCh38/hg38 22q12.1-12.3(chr22:26979579-33992220)x3
Condition: Global developmental delay [RCV000050553]|See cases [RCV000050553]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AP1B1   ASCC2   BPIFC   C22orf24   C22orf31   C22orf42   CABP7   CASTOR1   CCDC117   CCDC157   CHEK2   DEPDC5   DRG1   DUSP18   EIF4ENIF1   EMID1   EWSR1   FBXO7   GAL3ST1   GAS2L1   HORMAD2   HORMAD2-AS1   HSCB   INPP5J   KREMEN1   LARGE-AS1   LARGE1   LIF   LIF-AS1   LIMK2   LINC01521   LINC01638   LINC01640   LINC02554   LINC02558   MIR3199-1   MIR3199-2   MIR3200   MIR3928   MIR4764   MIR5739   MIR6818   MIR7109   MN1   MORC2   MORC2-AS1   MTFP1   MTMR3   NEFH   NF2   NIPSNAP1   OSBP2   OSM   PATZ1   PES1   PIK3IP1   PIK3IP1-DT   PISD   PITPNB   PLA2G3   PRR14L   RASL10A   RFPL1   RFPL1S   RFPL2   RFPL3   RFPL3S   RHBDD3   RNF185   RNF215   RTCB   SEC14L2   SEC14L3   SEC14L4   SEC14L6   SELENOM   SF3A1   SFI1   SLC35E4   SLC5A1   SLC5A4   SLC5A4-AS1   SMTN   SNORA50B   SNORD125   SYN3   TBC1D10A   TCN2   THOC5   TIMP3   TTC28   TTC28-AS1   TUG1   UQCR10   XBP1   YWHAH   ZMAT5   ZNRF3   ZNRF3-AS1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000022.11:g.(?_26979579)_(33992220_?)dup
NC_000022.10:g.(?_27375542)_(34388209_?)dup
NC_000022.9:g.(?_25705542)_(32718209_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382226,979,579 - 33,992,220CLINVAR
GRCh372227,375,542 - 34,388,209CLINVAR
Build 362225,705,542 - 32,718,209CLINVAR
Cytogenetic Map2222q12.1-12.3CLINVAR
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: 8617685
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-21
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.