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Variant : CV73862 (GRCh38/hg38 22q11.21-11.23(chr22:21562911-24307688)x1) Homo sapiens

Symbol: CV73862
Name: GRCh38/hg38 22q11.21-11.23(chr22:21562911-24307688)x1
Condition: See cases [RCV000053090]
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   C22orf15   CABIN1   CCDC116   CHCHD10   DDT   DDTL   DERL3   DRICH1   FAM230I   GGT5   GGTLC2   GNAZ   GSTT2   GSTT2B   GSTT4   IGL   IGLC1   IGLC2   IGLC3   IGLC7   IGLJ1   IGLJ2   IGLJ3   IGLJ4   IGLJ5   IGLJ6   IGLJ7   IGLL1   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   LINC01659   LINC02556   LINC02557   LL22NC03-63E9.3   LOC107963947   LOC107963948   LOC107963951   LOC107963955   LOC107966121   LOC107966125   LOC108491832   LOC108491837   LOC110121474   LOC111721701   LOC111721702   LOC111828506   LOC112694768   LOC112694770   MAPK1   MIF   MIF-AS1   MIR130B   MIR301B   MIR5571   MIR650   MMP11   PCAT14   PPIL2   PPM1F   PPM1F-AS1   PRAME   RAB36   RGL4   RSPH14   SDF2L1   SLC2A11   SMARCB1   SPECC1L   SPECC1L-ADORA2A   SUSD2   TOP3B   UBE2L3   VPREB1   VPREB3   YDJC   YPEL1   ZNF280A   ZNF280B   ZNF70  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000022.11:g.(?_21562911)_(24307688_?)del
NC_000022.10:g.(?_21917200)_(24703656_?)del
NC_000022.9:g.(?_20247200)_(23033656_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382221,562,911 - 24,307,688CLINVAR
GRCh372221,917,200 - 24,703,656CLINVAR
Build 362220,247,200 - 23,033,656CLINVAR
Cytogenetic Map2222q11.21-11.23CLINVAR
Prevalence: mental retardation is caused by aberrant copy numbers of subtelomeric regions in 3-8% of all cases.



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8620038
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-09-22
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.