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Variant : CV435505 (GRCh37/hg19 Xq13.3-24(chrX:74560735-116609286)) Homo sapiens

Symbol: CV435505
Name: GRCh37/hg19 Xq13.3-24(chrX:74560735-116609286)
Condition: See cases [RCV000510947]
Clinical Significance: pathogenic
Last Evaluated: 09/27/2013
Review Status: no assertion criteria provided
Related Genes: ACSL4   AGTR2   ALG13   AMMECR1   AMOT   APOOL   ARL13A   ARMCX1   ARMCX2   ARMCX3   ARMCX3-AS1   ARMCX4   ARMCX5   ARMCX5-GPRASP2   ARMCX6   ATG4A   ATP7A   ATRX   BEX1   BEX2   BEX3   BEX4   BEX5   BHLHB9   BRWD3   BTK   CAPN6   CENPI   CHM   CHRDL1   CLDN2   COL4A5   COL4A6   COX7B   CPXCR1   CSTF2   CT83   CYLC1   CYSLTR1   DACH2   DANT2   DCX   DIAPH2   DRP2   ESX1   FAM133A   FAM199X   FGF16   FRMPD3   GLA   GPR174   GPRASP1   GPRASP2   GUCY2F   H2BW1   H2BW2   HDX   HMGN5   HNRNPH2   HTR2C   IL13RA2   IL1RAPL2   IRS4   ITM2A   KCNE5   KLHL4   LHFPL1   LPAR4   LRCH2   LUZP4   MAGEE1   MAGEE2   MAGT1   MID2   MIR448   MORC4   MORF4L2   NAP1L3   NOX1   NRK   NUP62CL   NXF2   NXF2B   NXF3   NXF5   NXT2   P2RY10   PABPC5   PAK3   PBDC1   PCDH11X   PCDH19   PGAM4   PGK1   PIH1D3   PLP1   PLS3   POF1B   POU3F4   PRPS1   PSMD10   PWWP3B   RAB40A   RAB40AL   RAB9B   RADX   RBM41   RBMXL3   RIPPLY1   RNF128   RPA4   RPL36A   RPL36A-HNRNPH2   RPS6KA6   RTL3   RTL4   RTL9   SATL1   SERPINA7   SH3BGRL   SLC25A53   SLC6A14   SRPX2   SYTL4   TAF7L   TAF9B   TBC1D8B   TBX22   TCEAL1   TCEAL2   TCEAL3   TCEAL4   TCEAL5   TCEAL6   TCEAL7   TCEAL8   TCEAL9   TCP11X2   TENT5D   TEX13A   TEX13B   TGIF2LX   TIMM8A   TMEM164   TMEM31   TMEM35A   TMSB15A   TMSB15B   TNMD   TRMT2B   TRPC5   TRPC5OS   TSC22D3   TSPAN6   VSIG1   XKRX   ZCCHC18   ZDHHC15   ZMAT1   ZNF711  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37X74,560,735 - 116,609,286CLINVAR
Cytogenetic MapXXq13.3-24CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13443924
Created: 2017-11-07
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.