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Variant : CV165230 (GRCh38/hg38 22q11.22-11.23(chr22:22920775-24606692)x3) Homo sapiens

Symbol: CV165230
Name: GRCh38/hg38 22q11.22-11.23(chr22:22920775-24606692)x3
Condition: See cases [RCV000143543]
Clinical Significance: uncertain significance
Last Evaluated: 08/02/2013
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   GNAZ   GSTT2   GSTT2B   GSTT4   GUCD1   IGL   IGLC7   IGLJ7   IGLL1   LINC01659   LINC02556   LINC02557   LRRC75B   MIF   MIF-AS1   MMP11   PCAT14   RAB36   RGL4   RSPH14   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.(?_22920775)_(24606692_?)dup
NC_000022.10:g.(?_23262947)_(25002659_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382222,920,775 - 24,606,692CLINVAR
GRCh372223,262,947 - 25,002,659CLINVAR
Build 362221,592,947 - 23,332,659CLINVAR
Cytogenetic Map2222q11.22-11.23CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9491141
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-09-08
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.