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Variant : CV247881 (GRCh37/hg19 22q11.21-11.23(chr22:21400683-23654222)x3) Homo sapiens

Symbol: CV247881
Name: GRCh37/hg19 22q11.21-11.23(chr22:21400683-23654222)x3
Condition: See cases [RCV000240040]
Clinical Significance: pathogenic
Last Evaluated: 01/20/2016
Review Status: criteria provided, single submitter
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 gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh372221,400,683 - 23,654,222CLINVAR
Cytogenetic Map2222q11.21-11.23CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11541505
Created: 2016-10-11
Species: Homo sapiens
Last Modified: 2019-11-12
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.