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Variant : CV73848 (GRCh38/hg38 22q11.21-11.23(chr22:21443815-23397298)x1) Homo sapiens

Symbol: CV73848
Name: GRCh38/hg38 22q11.21-11.23(chr22:21443815-23397298)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053075]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053075]|See cases [RCV000053075]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: BCR   CCDC116   GGTLC2   GNAZ   HIC2   IGL   IGLC1   IGLC2   IGLC3   IGLC7   IGLJ1   IGLJ2   IGLJ3   IGLJ4   IGLJ5   IGLJ6   IGLJ7   IGLL5   IGLV1-36   IGLV1-40   IGLV1-44   IGLV1-47   IGLV1-50   IGLV1-51   IGLV10-54   IGLV11-55   IGLV2-11   IGLV2-14   IGLV2-18   IGLV2-23   IGLV2-33   IGLV2-8   IGLV3-1   IGLV3-10   IGLV3-12   IGLV3-16   IGLV3-19   IGLV3-21   IGLV3-22   IGLV3-25   IGLV3-27   IGLV3-32   IGLV3-9   IGLV4-3   IGLV4-60   IGLV4-69   IGLV5-37   IGLV5-45   IGLV5-48   IGLV5-52   IGLV6-57   IGLV7-43   IGLV7-46   IGLV8-61   IGLV9-49   LINC02556   MAPK1   MIR130B   MIR301B   MIR5571   MIR650   PPIL2   PPM1F   PPM1F-AS1   PRAME   RAB36   RIMBP3C   RSPH14   SDF2L1   TMEM191C   TOP3B   UBE2L3   VPREB1   YDJC   YPEL1   ZNF280A   ZNF280B  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000022.11:g.(?_21443815)_(23397298_?)del
NC_000022.10:g.(?_21798104)_(23739485_?)del
NC_000022.9:g.(?_20128104)_(22069485_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382221,443,815 - 23,397,298CLINVAR
GRCh372221,798,104 - 23,739,485CLINVAR
Build 362220,128,104 - 22,069,485CLINVAR
Cytogenetic Map2222q11.21-11.23CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8620023
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-12
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.