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

Variant : CV596479 (GRCh37/hg19 22q11.21-11.22(chr22:21689086-22979897)x1) Homo sapiens

Symbol: CV596479
Name: GRCh37/hg19 22q11.21-11.22(chr22:21689086-22979897)x1
Condition: not provided [RCV000741779]
Clinical Significance: uncertain significance
Last Evaluated: 03/08/2012
Review Status: no assertion criteria provided
Related Genes: CCDC116   HIC2   MAPK1   MIR130B   PPIL2   PPM1F   PPM1F-AS1   PRAME   RIMBP3B   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
GRCh372221,689,086 - 22,979,897CLINVAR
Cytogenetic Map2222q11.21-11.22CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14357153
Created: 2019-02-12
Species: Homo sapiens
Last Modified: 2019-11-05
Status: ACTIVE



NHLBI Logo

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