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Variant : CV673178 (GRCh37/hg19 22q11.21-11.23(chr22:21465661-23810042)x1) Homo sapiens

Symbol: CV673178
Name: GRCh37/hg19 22q11.21-11.23(chr22:21465661-23810042)x1
Condition: not provided [RCV000846294]
Clinical Significance: pathogenic
Last Evaluated: 12/06/2017
Review Status: no assertion criteria provided
Related Genes: BCR   CCDC116   GGT2   GGTLC2   GNAZ   HIC2   IGLC1   IGLL5   MAPK1   MIR130B   PPIL2   PPM1F   PPM1F-AS1   PRAME   RAB36   RIMBP3B   RIMBP3C   RSPH14   SDF2L1   TMEM191C   TOP3B   UBE2L3   VPREB1   YDJC   YPEL1   ZNF280A   ZNF280B  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh372221,465,661 - 23,810,042CLINVAR
Cytogenetic Map2222q11.21-11.23CLINVAR

Additional Information

External Database Links
RGD Object Information
RGD ID: 14976235
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.