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Variant : CV73256 (GRCh38/hg38 Xq21.1-25(chrX:81261589-126519353)x3) Homo sapiens

Symbol: CV73256
Name: GRCh38/hg38 Xq21.1-25(chrX:81261589-126519353)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052438]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052438]|See cases [RCV000052438]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ACSL4   AGTR2   AKAP14   ALG13   AMMECR1   AMOT   APOOL   ARL13A   ARMCX1   ARMCX2   ARMCX3   ARMCX3-AS1   ARMCX4   ARMCX5   ARMCX5-GPRASP2   ARMCX6   ATG4A   ATP1B4   BEX1   BEX2   BEX3   BEX4   BEX5   BHLHB9   BTK   C1GALT1C1   CAPN6   CENPI   CHM   CHRDL1   CLDN2   COL4A5   COL4A6   CPXCR1   CSTF2   CT47A1   CT47A10   CT47A11   CT47A12   CT47A2   CT47A3   CT47A4   CT47A5   CT47A6   CT47A7   CT47A8   CT47A9   CT47B1   CT83   CUL4B   CXorf56   CYLC1   DACH2   DANT1   DANT2   DCAF12L2   DCX   DIAPH2   DIAPH2-AS1   DOCK11   DRP2   ESX1   FAM133A   FAM199X   FRMPD3   FRMPD3-AS1   GLA   GLUD2   GPRASP1   GPRASP2   GRIA3   GUCY2F   H2BW1   H2BW2   HDX   HNRNPH2   HTR2C   IL13RA1   IL13RA2   IL1RAPL2   IRS4   KCNE5   KIAA1210   KLHL13   KLHL4   LAMP2   LHFPL1   LINC00630   LINC01285   LINC01402   LINC02589   LONRF3   LRCH2   LUZP4   MCTS1   MID2   MIR1264   MIR1277   MIR1298   MIR1321   MIR1911   MIR1912   MIR361   MIR3672   MIR3978   MIR4329   MIR448   MIR548AN   MIR548I4   MIR548M   MIR652   MIR764   MIR766   MORC4   MORF4L2   MORF4L2-AS1   NAP1L3   NCBP2L   NDUFA1   NKAP   NKRF   NOX1   NRK   NUP62CL   NXF2   NXF2B   NXF3   NXF5   NXT2   PABPC5   PABPC5-AS1   PAK3   PCDH11X   PCDH19   PGRMC1   PIH1D3   PLP1   PLS3   PLS3-AS1   POF1B   POU3F4   PRPS1   PSMD10   PWWP3B   RAB40A   RAB40AL   RAB9B   RADX   RBM41   RBMXL3   RHOXF1   RHOXF1-AS1   RHOXF2   RHOXF2B   RIPPLY1   RNF113A   RNF128   RPA4   RPL36A   RPL36A-HNRNPH2   RPL39   RPS6KA6   RTL4   RTL9   SATL1   SEPTIN6   SERPINA7   SERTM2   SH2D1A   SH3BGRL   SLC25A43   SLC25A5   SLC25A5-AS1   SLC25A53   SLC6A14   SNORA35   SNORA35B   SNORA69   SNORD96B   SOWAHD   SRPX2   STAG2   SYTL4   TAF7L   TBC1D8B   TCEAL1   TCEAL2   TCEAL3   TCEAL4   TCEAL5   TCEAL6   TCEAL7   TCEAL8   TCEAL9   TCP11X1   TCP11X2   TENM1   TEX13A   TEX13B   TEX13C   TEX13D   TGIF2LX   THOC2   TIMM8A   TMEM164   TMEM255A   TMEM31   TMEM35A   TMSB15A   TMSB15B   TMSB15B-AS1   TNMD   TRMT2B   TRPC5   TRPC5OS   TSC22D3   TSPAN6   UBE2A   UPF3B   VSIG1   WDR44   XACT   XIAP   XKRX   ZBTB33   ZCCHC12   ZCCHC18   ZMAT1   ZNF711  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_81261589)_(126519353_?)dup
NC_000023.10:g.(?_80517088)_(125653336_?)dup
NC_000023.9:g.(?_80403744)_(125481017_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X81,261,589 - 126,519,353CLINVAR
GRCh37X80,517,088 - 125,653,336CLINVAR
Build 36X80,403,744 - 125,481,017CLINVAR
Cytogenetic MapXXq21.1-25CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8619424
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-10-15
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.