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Variant : CV72523 (GRCh38/hg38 Xq21.1-21.2(chrX:80329330-86150446)x1) Homo sapiens

Symbol: CV72523
Name: GRCh38/hg38 Xq21.1-21.2(chrX:80329330-86150446)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051670]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051670]|See cases [RCV000051670]
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   BRWD3   CHM   CYLC1   DACH2   HDX   HMGN5   MIR1321   MIR361   MIR548I4   POF1B   POU3F4   RPS6KA6   SATL1   SH3BGRL   TENT5D   ZNF711  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_80329330)_(86150446_?)del
NC_000023.10:g.(?_79584829)_(85405450_?)del
NC_000023.9:g.(?_79471485)_(85292106_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38X80,329,330 - 86,150,446CLINVAR
GRCh37X79,584,829 - 85,405,450CLINVAR
Build 36X79,471,485 - 85,292,106CLINVAR
Cytogenetic MapXXq21.1-21.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8618683
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.