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Variant : CV804417 (GRCh37/hg19 22q11.22-11.23(chr22:22953514-25002483)x3) Homo sapiens

Symbol: CV804417
Name: GRCh37/hg19 22q11.22-11.23(chr22:22953514-25002483)x3
Condition: not provided [RCV001007174]
Clinical Significance: pathogenic
Last Evaluated: 12/28/2018
Review Status: no assertion criteria provided
Related Genes: ADORA2A   BCR   C22orf15   CABIN1   CHCHD10   DDT   DDTL   DERL3   DRICH1   GGT1   GGT5   GGTLC2   GNAZ   GSTT1   GSTT2   GSTT2B   GUCD1   IGLC1   IGLL1   IGLL5   LRRC75B   MIF   MMP11   RAB36   RGL4   RSPH14   SLC2A11   SMARCB1   SNRPD3   SPECC1L   SUSD2   UPB1   VPREB3   ZNF70  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh372222,953,514 - 25,002,483CLINVAR
Cytogenetic Map2222q11.22-11.23CLINVAR

Additional Information

External Database Links
RGD Object Information
RGD ID: 25323298
Created: 2020-04-07
Species: Homo sapiens
Last Modified: 2020-09-29
Status: ACTIVE


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