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Variant : CV556200 (GRCh37/hg19 22q11.21-11.22(chr22:21804562-22962962)x3) Homo sapiens

Symbol: CV556200
Name: GRCh37/hg19 22q11.21-11.22(chr22:21804562-22962962)x3
Condition: not provided [RCV000684491]
Clinical Significance: uncertain significance
Last Evaluated: 11/21/2017
Review Status: no assertion criteria provided
Related Genes: CCDC116   HIC2   MAPK1   MIR130B   PPIL2   PPM1F   PPM1F-AS1   PRAME   RIMBP3C   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 - 22,962,962CLINVAR
Cytogenetic Map2222q11.21-11.22CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13798727
Created: 2018-10-09
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.