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Variant : CV613927 (GRCh37/hg19 22q11.21-11.22(chr22:21800032-23237674)) Homo sapiens

Symbol: CV613927
Name: GRCh37/hg19 22q11.21-11.22(chr22:21800032-23237674)
Condition: not provided [RCV000767631]
Clinical Significance: likely pathogenic
Last Evaluated: 11/01/2018
Review Status: criteria provided, single submitter
Related Genes: CCDC116   GGTLC2   HIC2   IGLC1   IGLL5   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
GRCh372221,800,032 - 23,237,674CLINVAR
Cytogenetic Map2222q11.21-11.22CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14399596
Created: 2019-05-07
Species: Homo sapiens
Last Modified: 2020-03-31
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.