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Variant : CV72521 (GRCh38/hg38 Xq21.1-23(chrX:77544283-110500317)x1) Homo sapiens

Symbol: CV72521
Name: GRCh38/hg38 Xq21.1-23(chrX:77544283-110500317)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051668]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051668]|See cases [RCV000051668]
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   AMMECR1   APOOL   ARL13A   ARMCX1   ARMCX2   ARMCX3   ARMCX3-AS1   ARMCX4   ARMCX5   ARMCX5-GPRASP2   ARMCX6   ATG4A   ATP7A   ATRX   BEX1   BEX2   BEX3   BEX4   BEX5   BHLHB9   BRWD3   BTK   CENPI   CHM   CLDN2   COL4A5   COL4A6   COX7B   CPXCR1   CSTF2   CYLC1   CYSLTR1   DACH2   DIAPH2   DIAPH2-AS1   DRP2   ESX1   FAM133A   FAM199X   FRMPD3   FRMPD3-AS1   GLA   GPR174   GPRASP1   GPRASP2   GUCY2F   H2BW1   H2BW2   HDX   HMGN5   HNRNPH2   IL1RAPL2   IRS4   ITM2A   KCNE5   KLHL4   LINC00630   LINC02589   LPAR4   MAGT1   MID2   MIR1321   MIR361   MIR3978   MIR4328   MIR548AN   MIR548I4   MIR548M   MIR652   MORC4   MORF4L2   MORF4L2-AS1   NAP1L3   NCBP2L   NOX1   NRK   NUP62CL   NXF2   NXF2B   NXF3   NXF5   NXT2   P2RY10   PABPC5   PABPC5-AS1   PCDH11X   PCDH19   PGAM4   PGK1   PIH1D3   PLP1   POF1B   POU3F4   PRPS1   PSMD10   PWWP3B   RAB40A   RAB40AL   RAB9B   RADX   RBM41   RIPPLY1   RNF128   RPA4   RPL36A   RPL36A-HNRNPH2   RPS6KA6   RTL3   RTL9   SATL1   SERPINA7   SH3BGRL   SLC25A53   SNORD96B   SRPX2   SYTL4   TAF7L   TAF9B   TBC1D8B   TBX22   TCEAL1   TCEAL2   TCEAL3   TCEAL4   TCEAL5   TCEAL6   TCEAL7   TCEAL8   TCEAL9   TCP11X1   TCP11X2   TENT5D   TEX13A   TEX13B   TGIF2LX   TIMM8A   TMEM164   TMEM31   TMEM35A   TMSB15A   TMSB15B   TMSB15B-AS1   TNMD   TRMT2B   TSC22D3   TSPAN6   VSIG1   XKRX   ZCCHC18   ZMAT1   ZNF711  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_77544283)_(110500317_?)del
NC_000023.10:g.(?_76799762)_(109743545_?)del
NC_000023.9:g.(?_76686418)_(109630201_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38X77,544,283 - 110,500,317CLINVAR
GRCh37X76,799,762 - 109,743,545CLINVAR
Build 36X76,686,418 - 109,630,201CLINVAR
Cytogenetic MapXXq21.1-23CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8618681
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.