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Variant : CV676135 (GRCh37/hg19 22q11.23(chr22:23650200-25066472)x3) Homo sapiens

Symbol: CV676135
Name: GRCh37/hg19 22q11.23(chr22:23650200-25066472)x3
Condition: not provided [RCV000849234]
Clinical Significance: pathogenic
Last Evaluated: 08/29/2017
Review Status: no assertion criteria provided
Related Genes: ADORA2A   BCR   C22orf15   CABIN1   CHCHD10   DDT   DDTL   DERL3   DRICH1   GGT1   GGT5   GSTT1   GSTT2   GSTT2B   GUCD1   IGLL1   LRRC75B   MIF   MMP11   RGL4   SLC2A11   SMARCB1   SNRPD3   SPECC1L   SUSD2   UPB1   VPREB3   ZNF70  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh372223,650,200 - 25,066,472CLINVAR
Cytogenetic Map2222q11.23CLINVAR

Additional Information

External Database Links
RGD Object Information
RGD ID: 14976608
Created: 2019-10-08
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.