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Variant : CV165102 (GRCh38/hg38 22q12.1-12.2(chr22:26451042-31451926)x1) Homo sapiens

Symbol: CV165102
Name: GRCh38/hg38 22q12.1-12.2(chr22:26451042-31451926)x1
Condition: See cases [RCV000143415]
Clinical Significance: pathogenic
Last Evaluated: 05/07/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AC004264.1   AL008638.2   AP1B1   ASCC2   C22orf31   CABP7   CASTOR1   CCDC117   CCDC157   CHEK2   CRYBA4   CRYBB1   DRG1   DUSP18   EIF4ENIF1   EMID1   EWSR1   GAL3ST1   GAS2L1   HORMAD2   HORMAD2-AS1   HPS4   HSCB   INPP5J   KIAA1656   KREMEN1   LIF   LIF-AS1   LIMK2   LINC01422   LINC01521   LINC01638   LINC02554   LOC100507599   LOC105372977   LOC105372990   LOC107275221   LOC107275224   LOC107275225   LOC107985544   LOC108178988   LOC108353816   LOC110091768   LOC110121337   LOC110121419   LOC111828507   LOC112694772   LOC112695074   LOC112695075   LOC112695076   LOC112695077   LOC112695078   LOC112695079   LOC112695080   LOC112695081   LOC112695084   LOC116309128   LOC116309129   LOC116309130   MIAT   MIATNB   MIR3199-1   MIR3199-2   MIR3200   MIR3928   MIR548J   MIR5739   MIR6818   MN1   MORC2   MORC2-AS1   MTFP1   MTMR3   NEFH   NF2   NIPSNAP1   OSBP2   OSM   PATZ1   PES1   PIK3IP1   PIK3IP1-DT   PITPNB   PLA2G3   RASL10A   RFPL1   RFPL1S   RHBDD3   RNF185   RNF215   SEC14L2   SEC14L3   SEC14L4   SEC14L6   SELENOM   SF3A1   SLC35E4   SMTN   SNORD125   SRRD   TBC1D10A   TCN2   TFIP11   THOC5   TPST2   TTC28   TTC28-AS1   TUG1   UQCR10   XBP1   ZMAT5   ZNRF3   ZNRF3-AS1  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000022.11:g.(?_26451042)_(31451926_?)del
Human AssemblyChrPosition (strand)Source
GRCh382226,451,042 - 31,451,926CLINVAR
GRCh372226,847,008 - 31,847,912CLINVAR
Build 362225,177,008 - 30,177,912CLINVAR
Cytogenetic Map2222q12.1-12.2CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9491013
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-09-22
Status: ACTIVE


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