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Variant : CV917652 (GRCh37/hg19 22q11.21-11.22(chr22:21979096-22941426)x3) Homo sapiens

Symbol: CV917652
Name: GRCh37/hg19 22q11.21-11.22(chr22:21979096-22941426)x3
Condition: See cases [RCV001194531]
Clinical Significance: pathogenic
Last Evaluated: 04/03/2019
Review Status: criteria provided, single submitter
Related Genes: CCDC116   MAPK1   MIR130B   PPIL2   PPM1F   PPM1F-AS1   PRAME   SDF2L1   TOP3B   VPREB1   YDJC   YPEL1   ZNF280A   ZNF280B  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh372221,979,096 - 22,941,426CLINVAR
Cytogenetic Map2222q11.21-11.22CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 34888876
Created: 2020-07-07
Species: Homo sapiens
Last Modified: 2020-09-08
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.