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Variant : CV72569 (GRCh38/hg38 Xq22.1-22.3(chrX:102070552-108264804)x1) Homo sapiens

Symbol: CV72569
Name: GRCh38/hg38 Xq22.1-22.3(chrX:102070552-108264804)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051716]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051716]|See cases [RCV000051716]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ARMCX5   ARMCX5-GPRASP2   ATG4A   BEX1   BEX2   BEX3   BEX4   BEX5   BHLHB9   CLDN2   COL4A6   ESX1   FAM199X   FRMPD3   FRMPD3-AS1   GLRA4   GPRASP1   GPRASP2   H2BW1   H2BW2   IL1RAPL2   LINC00630   MID2   MIR548AN   MORC4   MORF4L2   MORF4L2-AS1   MYCLP1   NCBP2L   NRK   NUP62CL   NXF2   NXF2B   NXF3   NXF4   PIH1D3   PLP1   PRPS1   PSMD10   PWWP3B   RAB40A   RAB40AL   RAB9B   RADX   RBM41   RIPPLY1   RNF128   SERPINA7   SLC25A53   TBC1D8B   TCEAL1   TCEAL2   TCEAL3   TCEAL4   TCEAL5   TCEAL6   TCEAL7   TCEAL8   TCEAL9   TCP11X2   TEX13A   TEX13B   TMEM31   TMSB15A   TMSB15B   TSC22D3   VSIG1   ZCCHC18  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_102070552)_(108264804_?)del
NC_000023.10:g.(?_101325524)_(107508034_?)del
NC_000023.9:g.(?_101212180)_(107394690_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38X102,070,552 - 108,264,804CLINVAR
GRCh37X101,325,524 - 107,508,034CLINVAR
Build 36X101,212,180 - 107,394,690CLINVAR
Cytogenetic MapXXq22.1-22.3CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8618729
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2017-10-31
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.