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Variant : CV72586 (GRCh38/hg38 Xq27.1-28(chrX:139230333-150628474)x1) Homo sapiens

Symbol: CV72586
Name: GRCh38/hg38 Xq27.1-28(chrX:139230333-150628474)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051733]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051733]|See cases [RCV000051733]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AFF2   ATP11C   CDR1   CXorf40A   CXorf40B   CXorf51A   CXorf51B   CXorf66   F9   FMR1   FMR1-AS1   FMR1NB   HSFX1   HSFX2   HSFX3   HSFX4   IDS   LDOC1   LINC00632   LINC00850   LINC00893   LINC00894   MAGEA11   MAGEA8   MAGEA8-AS1   MAGEA9   MAGEA9B   MAGEC1   MAGEC2   MAGEC3   MAMLD1   MCF2   MIR2114   MIR320D2   MIR505   MIR506   MIR507   MIR508   MIR509-1   MIR509-2   MIR509-3   MIR510   MIR513A1   MIR513A2   MIR513B   MIR513C   MIR514A1   MIR514A2   MIR514A3   MIR514B   MIR888   MIR890   MIR891A   MIR891B   MIR892A   MIR892B   MIR892C   MTM1   SLITRK2   SLITRK4   SOX3   SPANXA1   SPANXA2   SPANXA2-OT1   SPANXB1   SPANXC   SPANXD   SPANXN1   SPANXN2   SPANXN3   SPANXN4   TMEM185A   UBE2NL  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_139230333)_(150628474_?)del
NC_000023.10:g.(?_138312495)_(149782550_?)del
NC_000023.9:g.(?_138140161)_(149547605_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38X139,230,333 - 150,628,474CLINVAR
GRCh37X138,312,495 - 149,782,550CLINVAR
Build 36X138,140,161 - 149,547,605CLINVAR
Cytogenetic MapXXq27.1-28CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8618746
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.