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Variant : CV72560 (GRCh38/hg38 Xq21.1-21.2(chrX:81762602-86457999)x1) Homo sapiens

Symbol: CV72560
Name: GRCh38/hg38 Xq21.1-21.2(chrX:81762602-86457999)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051707]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051707]|See cases [RCV000051707]
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)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_81762602)_(86457999_?)del
NC_000023.10:g.(?_81018101)_(85713002_?)del
NC_000023.9:g.(?_80904757)_(85599658_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38X81,762,602 - 86,457,999CLINVAR
GRCh37X81,018,101 - 85,713,002CLINVAR
Build 36X80,904,757 - 85,599,658CLINVAR
Cytogenetic MapXXq21.1-21.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8618720
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-09-10
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.