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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: 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: AC004264.1   AL008638.2   AL021937.1   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   KIAA1656   KREMEN1   LARGE-AS1   LARGE1   LIF   LIF-AS1   LIMK2   LINC01521   LINC01638   LINC01640   LINC02554   LINC02558   LOC105372977   LOC105372990   LOC107275221   LOC107275224   LOC107275225   LOC107985544   LOC108178988   LOC108353816   LOC110121337   LOC110121419   LOC110121499   LOC111828507   LOC112695074   LOC112695075   LOC112695076   LOC112695077   LOC112695078   LOC112695079   LOC112695080   LOC112695081   LOC112695084   LOC112695085   LOC112695086   LOC112695087   LOC116309129   LOC116309130   MIR3199-1   MIR3199-2   MIR3200   MIR3928   MIR4764   MIR5739   MIR6818   MIR7109   MN1   MORC2   MORC2-AS1   MTFP1   MTMR3   NEFH   NF2   NIPSNAP1   NOA3   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   SYN3-AS1   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
 
RGD Object Information
RGD ID: 8617685
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-09-22
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.