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Variant : CV73924 (GRCh38/hg38 22q11.22-11.23(chr22:22686122-24577664)x3) Homo sapiens

Symbol: CV73924
Name: GRCh38/hg38 22q11.22-11.23(chr22:22686122-24577664)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053161]|Global developmental delay [RCV000053162]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053161]|See cases [RCV000053161]
Clinical Significance: uncertain significance
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADORA2A   ADORA2A-AS1   BCR   C22orf15   CABIN1   CHCHD10   DDT   DDTL   DERL3   DRICH1   FAM230I   GGT5   GNAZ   GSTT2   GSTT2B   GSTT4   GUCD1   IGL   IGLC1   IGLC2   IGLC3   IGLC7   IGLJ1   IGLJ2   IGLJ3   IGLJ4   IGLJ5   IGLJ6   IGLJ7   IGLL1   IGLL5   IGLV2-11   IGLV2-14   IGLV2-18   IGLV2-23   IGLV2-8   IGLV3-1   IGLV3-10   IGLV3-12   IGLV3-16   IGLV3-19   IGLV3-21   IGLV3-22   IGLV3-25   IGLV3-9   IGLV4-3   LINC01659   LINC02556   LINC02557   MIF   MIF-AS1   MIR5571   MIR650   MMP11   PCAT14   RAB36   RGL4   RSPH14   SLC2A11   SMARCB1   SNRPD3   SPECC1L   SPECC1L-ADORA2A   SUSD2   UPB1   VPREB3   ZNF70  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000022.11:g.(?_22686122)_(24577664_?)dup
Human AssemblyChrPosition (strand)Source
GRCh382222,686,122 - 24,577,664CLINVAR
GRCh372223,028,586 - 24,973,632CLINVAR
Build 362221,358,586 - 23,303,632CLINVAR
Cytogenetic Map2222q11.22-11.23CLINVAR
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: 8620102
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-14
Status: ACTIVE


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