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Variant : CV72562 (GRCh38/hg38 Xq21.1-21.2(chrX:81765008-86444979)x0) Homo sapiens

Symbol: CV72562
Name: GRCh38/hg38 Xq21.1-21.2(chrX:81765008-86444979)x0
Condition: Global developmental delay [RCV000051709]|See cases [RCV000051709]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: APOOL   CHM   CYLC1   DACH2   HDX   MIR1321   MIR361   MIR548I4   POF1B   POU3F4   RPS6KA6   SATL1   ZNF711  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_81765008)_(86444979_?)del
Human AssemblyChrPosition (strand)Source
GRCh38X81,765,008 - 86,444,979CLINVAR
GRCh37X81,020,507 - 85,699,982CLINVAR
Build 36X80,907,163 - 85,586,638CLINVAR
Cytogenetic MapXXq21.1-21.2CLINVAR
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
CRRD Object Information
CRRD ID: 8618722
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-09-10
Status: ACTIVE


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