Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV436236 (GRCh37/hg19 22q11.21-11.22(chr22:21798907-22962962)x1) Homo sapiens

Symbol: CV436236
Name: GRCh37/hg19 22q11.21-11.22(chr22:21798907-22962962)x1
Condition: See cases [RCV000511924]
Clinical Significance: pathogenic
Last Evaluated: 06/16/2014
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 - 22,962,962CLINVAR
Cytogenetic Map2222q11.21-11.22CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13444893
Created: 2017-11-07
Species: Homo sapiens
Last Modified: 2020-09-22
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.