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Variant : CV165249 (GRCh38/hg38 22q11.23(chr22:23310399-24643051)x3) Homo sapiens

Symbol: CV165249
Name: GRCh38/hg38 22q11.23(chr22:23310399-24643051)x3
Condition: See cases [RCV000143562]
Clinical Significance: likely benign|uncertain significance
Last Evaluated: 07/18/2014
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADORA2A   ADORA2A-AS1   BCR   C22orf15   CABIN1   CHCHD10   DDT   DDTL   DERL3   DRICH1   FAM230I   GGT1   GGT5   GSTT2   GSTT2B   GSTT4   GUCD1   IGLL1   LINC01659   LINC02556   LINC02557   LOC107963948   LOC107966125   LOC111721701   LOC111721702   LOC111828506   LOC112694770   LRRC75B   MIF   MIF-AS1   MMP11   PCAT14   RGL4   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.(?_23310399)_(24643051_?)dup
Human AssemblyChrPosition (strand)Source
GRCh382223,310,399 - 24,643,051CLINVAR
GRCh372223,652,586 - 25,039,018CLINVAR
Build 362221,982,586 - 23,369,018CLINVAR
Cytogenetic Map2222q11.23CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9491160
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.