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Variant : CV435470 (GRCh37/hg19 22q11.21-11.22(chr22:21798907-22962196)x1) Homo sapiens

Symbol: CV435470
Name: GRCh37/hg19 22q11.21-11.22(chr22:21798907-22962196)x1
Condition: See cases [RCV000510228]
Clinical Significance: pathogenic
Last Evaluated: 02/11/2016
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 loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh372221,798,907 - 22,962,196CLINVAR
Cytogenetic Map2222q11.21-11.22CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13443208
Created: 2017-11-07
Species: Homo sapiens
Last Modified: 2020-09-22
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.