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Variant : CV73936 (GRCh38/hg38 22q11.23(chr22:23338443-24577664)x3) Homo sapiens

Symbol: CV73936
Name: GRCh38/hg38 22q11.23(chr22:23338443-24577664)x3
Condition: See cases [RCV000053175]
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   C22orf15   CABIN1   CHCHD10   DDT   DDTL   DERL3   DRICH1   FAM230I   GGT5   GSTT2   GSTT2B   GSTT4   GUCD1   IGLL1   LINC01659   LINC02557   LOC111721701   LOC111721702   LOC111828506   LOC112694770   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.(?_23338443)_(24577664_?)dup
NC_000022.10:g.(?_23680630)_(24973632_?)dup
NC_000022.9:g.(?_22010630)_(23303632_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382223,338,443 - 24,577,664CLINVAR
GRCh372223,680,630 - 24,973,632CLINVAR
Build 362222,010,630 - 23,303,632CLINVAR
Cytogenetic Map2222q11.23CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8620115
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.