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Variant : CV160365 (GRCh38/hg38 22q11.23(chr22:23311976-24669609)x3) Homo sapiens

Symbol: CV160365
Name: GRCh38/hg38 22q11.23(chr22:23311976-24669609)x3
Condition: See cases [RCV000139440]
Clinical Significance: likely benign|uncertain significance
Last Evaluated: 05/07/2012
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   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)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000022.11:g.(?_23311976)_(24669609_?)dup
NC_000022.10:g.(?_23654163)_(25065576_?)dup
NC_000022.9:g.(?_21984163)_(23395576_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382223,311,976 - 24,669,609CLINVAR
GRCh372223,654,163 - 25,065,576CLINVAR
Build 362221,984,163 - 23,395,576CLINVAR
Cytogenetic Map2222q11.23CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9486971
Created: 2014-09-09
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.