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Variant : CV556224 (GRCh37/hg19 22q11.21-11.23(chr22:20716876-23819697)x1) Homo sapiens

Symbol: CV556224
Name: GRCh37/hg19 22q11.21-11.23(chr22:20716876-23819697)x1
Condition: not provided [RCV000684515]
Clinical Significance: pathogenic
Last Evaluated: 11/01/2017
Review Status: no assertion criteria provided
Related Genes: AIFM3   BCR   CCDC116   CRKL   GGT2   GGTLC2   GNAZ   HIC2   IGLC1   IGLL5   KLHL22   LZTR1   MAPK1   MED15   MIR130B   P2RX6   PI4KA   PPIL2   PPM1F   PPM1F-AS1   PRAME   RAB36   RIMBP3B   RIMBP3C   RSPH14   SCARF2   SDF2L1   SERPIND1   SLC7A4   SNAP29   THAP7   TMEM191C   TOP3B   UBE2L3   USP41   VPREB1   YDJC   YPEL1   ZNF280A   ZNF280B   ZNF74  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh372220,716,876 - 23,819,697CLINVAR
Cytogenetic Map2222q11.21-11.23CLINVAR

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 13798757
Created: 2018-10-09
Species: Homo sapiens
Last Modified: 2020-03-31
Status: ACTIVE


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