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Variant : CV247979 (GRCh37/hg19 22q11.21-11.22(chr22:21923858-23025727)x3) Homo sapiens

Symbol: CV247979
Name: GRCh37/hg19 22q11.21-11.22(chr22:21923858-23025727)x3
Condition: See cases [RCV000240579]
Clinical Significance: pathogenic
Last Evaluated: 01/20/2016
Review Status: criteria provided, single submitter
Related Genes: CCDC116   GGTLC2   MAPK1   MIR130B   PPIL2   PPM1F   PPM1F-AS1   PRAME   SDF2L1   TOP3B   UBE2L3   VPREB1   YDJC   YPEL1   ZNF280A   ZNF280B  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh372221,923,858 - 23,025,727CLINVAR
Cytogenetic Map2222q11.21-11.22CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11541952
Created: 2016-10-11
Species: Homo sapiens
Last Modified: 2019-11-05
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.