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Variant : CV73544 (GRCh38/hg38 11q24.3-25(chr11:129700536-134998513)x1) Homo sapiens

Symbol: CV73544
Name: GRCh38/hg38 11q24.3-25(chr11:129700536-134998513)x1
Condition: See cases [RCV000052742]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ACAD8   ADAMTS15   ADAMTS8   AP003025.1   APLP2   B3GAT1   B3GAT1-DT   GLB1L2   GLB1L3   IGSF9B   JAM3   LINC00167   LINC02551   LINC02697   LINC02706   LINC02714   LINC02731   LINC02743   LINC02873   MIR4697   MIR8052   NCAPD3   NFRKB   NTM   NTM-AS1   NTM-IT   OPCML   PRDM10   SNORD153   SNX19   SPATA19   ST14   THYN1   TMEM45B   VPS26B   ZBTB44   ZBTB44-DT  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000011.10:g.(?_129700536)_(134998513_?)del
NC_000011.9:g.(?_129570431)_(134868407_?)del
NC_000011.8:g.(?_129075641)_(134373617_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3811129,700,536 - 134,998,513CLINVAR
GRCh3711129,570,431 - 134,868,407CLINVAR
Build 3611129,075,641 - 134,373,617CLINVAR
Cytogenetic Map1111q24.3-25CLINVAR
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: 8619716
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-07-28
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.