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Variant : CV556229 (GRCh37/hg19 22q11.21-11.23(chr22:21465661-24885806)x1) Homo sapiens

Symbol: CV556229
Name: GRCh37/hg19 22q11.21-11.23(chr22:21465661-24885806)x1
Condition: not provided [RCV000684520]
Clinical Significance: pathogenic
Last Evaluated: 02/27/2018
Review Status: no assertion criteria provided
Related Genes: ADORA2A   BCR   C22orf15   CABIN1   CCDC116   CHCHD10   DDT   DDTL   DERL3   DRICH1   GGT2   GGT5   GGTLC2   GNAZ   GSTT1   GSTT2   GSTT2B   HIC2   IGLC1   IGLL1   IGLL5   MAPK1   MIF   MIR130B   MMP11   PPIL2   PPM1F   PPM1F-AS1   PRAME   RAB36   RGL4   RIMBP3B   RIMBP3C   RSPH14   SDF2L1   SLC2A11   SMARCB1   SPECC1L   SUSD2   TMEM191C   TOP3B   UBE2L3   VPREB1   VPREB3   YDJC   YPEL1   ZNF280A   ZNF280B   ZNF70  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh372221,465,661 - 24,885,806CLINVAR
Cytogenetic Map2222q11.21-11.23CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13798762
Created: 2018-10-09
Species: Homo sapiens
Last Modified: 2019-11-05
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.