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Variant : CV73546 (GRCh38/hg38 11q25(chr11:131587470-134609295)x1) Homo sapiens

Symbol: CV73546
Name: GRCh38/hg38 11q25(chr11:131587470-134609295)x1
Condition: See cases [RCV000052744]
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   B3GAT1   B3GAT1-DT   GLB1L2   GLB1L3   IGSF9B   JAM3   LINC02731   LINC02743   MIR4697   NCAPD3   NTM   NTM-AS1   NTM-IT   OPCML   SNORD153   SPATA19   THYN1   VPS26B  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000011.10:g.(?_131587470)_(134609295_?)del
Human AssemblyChrPosition (strand)Source
GRCh3811131,587,470 - 134,609,295CLINVAR
GRCh3711131,457,364 - 134,479,189CLINVAR
Build 3611130,962,574 - 133,984,399CLINVAR
Cytogenetic Map1111q25CLINVAR
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: 8619718
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-07-28
Status: ACTIVE


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