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Variant : CV156541 (GRCh38/hg38 Xq22.1-23(chrX:100597687-111651116)x4) Homo sapiens

Symbol: CV156541
Name: GRCh38/hg38 Xq22.1-23(chrX:100597687-111651116)x4
Condition: See cases [RCV000136029]
Clinical Significance: pathogenic
Last Evaluated: 10/30/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ACSL4   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   DNAAF6   DRP2   ESX1   FAM199X   FRMPD3   FRMPD3-AS1   GLA   GPRASP1   GPRASP2   GUCY2F   H2BW1   H2BW2   HNRNPH2   IL1RAPL2   IRS4   KCNE5   LINC00630   LINC02589   MID2   MIR3978   MIR548AN   MIR652   MORC4   MORF4L2   MORF4L2-AS1   NCBP2L   NOX1   NRK   NUP62CL   NXF2   NXF2B   NXF3   NXF5   NXT2   PAK3   PLP1   PRPS1   PSMD10   PWWP3B   RAB40A   RAB40AL   RAB9B   RADX   RBM41   RIPPLY1   RNF128   RPL36A   RPL36A-HNRNPH2   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   TSC22D3   TSPAN6   VSIG1   XKRX   ZCCHC18   ZMAT1  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_100597687)_(111651116_?)dup
Human AssemblyChrPosition (strand)Source
GRCh38X100,597,687 - 111,651,116CLINVAR
GRCh37X99,852,684 - 110,894,344CLINVAR
Build 36X99,739,340 - 110,781,000CLINVAR
Cytogenetic MapXXq22.1-23CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9483592
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-24
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.