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Variant : CV436987 (GRCh37/hg19 22q11.21-11.23(chr22:21804562-23781918)x3) Homo sapiens

Symbol: CV436987
Name: GRCh37/hg19 22q11.21-11.23(chr22:21804562-23781918)x3
Condition: See cases [RCV000510372]
Clinical Significance: uncertain significance
Last Evaluated: 02/14/2018
Review Status: no assertion criteria provided
Related Genes: BCR   CCDC116   GGTLC2   GNAZ   HIC2   IGLC1   IGLL5   MAPK1   MIR130B   PPIL2   PPM1F   PPM1F-AS1   PRAME   RAB36   RIMBP3C   RSPH14   SDF2L1   TMEM191C   TOP3B   UBE2L3   VPREB1   YDJC   YPEL1   ZNF280A   ZNF280B  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh372221,804,562 - 23,781,918CLINVAR
Cytogenetic Map2222q11.21-11.23CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13443351
Created: 2017-11-07
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.