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Variant : CV160088 (GRCh38/hg38 Xq21.32-23(chrX:93591590-112530092)x3) Homo sapiens

Symbol: CV160088
Name: GRCh38/hg38 Xq21.32-23(chrX:93591590-112530092)x3
Condition: See cases [RCV000139204]
Clinical Significance: pathogenic
Last Evaluated: 06/20/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ACSL4   ALG13   AMMECR1   ARL13A   ARMCX1   ARMCX2   ARMCX3   ARMCX3-AS1   ARMCX4   ARMCX5   ARMCX5-GPRASP2   ARMCX6   ATG4A   BEX1   BEX2   BEX3   BEX4   BEX5   BHLHB9   BTK   CAPN6   CENPI   CHRDL1   CLDN2   COL4A5   COL4A6   CSTF2   DCX   DIAPH2   DIAPH2-AS1   DRP2   ESX1   FAM133A   FAM199X   FRMPD3   FRMPD3-AS1   GLA   GPRASP1   GPRASP2   GUCY2F   H2BW1   H2BW2   HNRNPH2   IL1RAPL2   IRS4   KCNE5   LINC00630   LINC02589   MID2   MIR3978   MIR548AN   MIR548M   MIR652   MORC4   MORF4L2   MORF4L2-AS1   NAP1L3   NCBP2L   NOX1   NRK   NUP62CL   NXF2   NXF2B   NXF3   NXF5   NXT2   PAK3   PCDH19   PIH1D3   PLP1   PRPS1   PSMD10   PWWP3B   RAB40A   RAB40AL   RAB9B   RADX   RBM41   RIPPLY1   RNF128   RPA4   RPL36A   RPL36A-HNRNPH2   RTL4   RTL9   SERPINA7   SERTM2   SLC25A53   SNORD96B   SRPX2   SYTL4   TAF7L   TBC1D8B   TCEAL1   TCEAL2   TCEAL3   TCEAL4   TCEAL5   TCEAL6   TCEAL7   TCEAL8   TCEAL9   TCP11X1   TCP11X2   TEX13A   TEX13B   TIMM8A   TMEM164   TMEM31   TMEM35A   TMSB15A   TMSB15B   TMSB15B-AS1   TNMD   TRMT2B   TRPC5   TRPC5OS   TSC22D3   TSPAN6   VSIG1   XKRX   ZCCHC18   ZMAT1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_93591590)_(112530092_?)dup
NC_000023.10:g.(?_92846589)_(111773320_?)dup
NC_000023.9:g.(?_92733245)_(111659976_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X93,591,590 - 112,530,092CLINVAR
GRCh37X92,846,589 - 111,773,320CLINVAR
Build 36X92,733,245 - 111,659,976CLINVAR
Cytogenetic MapXXq21.32-23CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9486735
Created: 2014-09-09
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.