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Variant : CV164055 (GRCh38/hg38 Xq21.1-23(chrX:81109470-109442793)x1) Homo sapiens

Symbol: CV164055
Name: GRCh38/hg38 Xq21.1-23(chrX:81109470-109442793)x1
Condition: See cases [RCV000142372]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: APOOL   ARL13A   ARMCX1   ARMCX2   ARMCX3   ARMCX3-AS1   ARMCX4   ARMCX5   ARMCX5-GPRASP2   ARMCX6   ATG4A   BEX1   BEX2   BEX3   BEX4   BEX5   BHLHB9   BTK   CENPI   CHM   CLDN2   COL4A5   COL4A6   CPXCR1   CSTF2   CYLC1   DACH2   DIAPH2   DIAPH2-AS1   DRP2   ESX1   FAM133A   FAM199X   FRMPD3   FRMPD3-AS1   GLA   GPRASP1   GPRASP2   GUCY2F   H2BW1   H2BW2   HDX   HMGN5   HNRNPH2   IL1RAPL2   IRS4   KLHL4   LINC00630   LINC02589   MID2   MIR1321   MIR361   MIR548AN   MIR548I4   MIR548M   MORC4   MORF4L2   MORF4L2-AS1   NAP1L3   NCBP2L   NOX1   NRK   NUP62CL   NXF2   NXF2B   NXF3   NXF5   PABPC5   PABPC5-AS1   PCDH11X   PCDH19   PIH1D3   PLP1   POF1B   POU3F4   PRPS1   PSMD10   PWWP3B   RAB40A   RAB40AL   RAB9B   RADX   RBM41   RIPPLY1   RNF128   RPA4   RPL36A   RPL36A-HNRNPH2   RPS6KA6   SATL1   SERPINA7   SH3BGRL   SLC25A53   SRPX2   SYTL4   TAF7L   TBC1D8B   TCEAL1   TCEAL2   TCEAL3   TCEAL4   TCEAL5   TCEAL6   TCEAL7   TCEAL8   TCEAL9   TCP11X1   TCP11X2   TEX13A   TEX13B   TGIF2LX   TIMM8A   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.(?_81109470)_(109442793_?)del
NC_000023.10:g.(?_80364969)_(108686022_?)del
NC_000023.9:g.(?_80251625)_(108572678_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38X81,109,470 - 109,442,793CLINVAR
GRCh37X80,364,969 - 108,686,022CLINVAR
Build 36X80,251,625 - 108,572,678CLINVAR
Cytogenetic MapXXq21.1-23CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9489891
Created: 2014-09-09
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.