Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV380959 (GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4) Homo sapiens

Symbol: CV380959
Name: GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4
Condition: See cases [RCV000448394]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ABCB7   ACSL4   ACTRT1   ADGRG4   AGTR2   AIFM1   AKAP14   ALG13   AMMECR1   AMOT   APLN   APOOL   ARHGAP36   ARHGEF6   ARL13A   ARMCX1   ARMCX2   ARMCX3   ARMCX3-AS1   ARMCX4   ARMCX5   ARMCX5-GPRASP2   ARMCX6   ATG4A   ATP11C   ATP1B4   ATP7A   ATRX   BCORL1   BEX1   BEX2   BEX3   BEX4   BEX5   BHLHB9   BRS3   BRWD3   BTK   C1GALT1C1   CAPN6   CCDC160   CD40LG   CDX4   CENPI   CHIC1   CHM   CHRDL1   CLDN2   COL4A5   COL4A6   COX7B   CPXCR1   CSTF2   CT45A1   CT45A2   CT45A3   CT45A5   CT45A6   CT47A1   CT47A10   CT47A11   CT47A12   CT47A2   CT47A3   CT47A4   CT47A5   CT47A6   CT47A7   CT47A8   CT47A9   CT47B1   CT55   CT83   CUL4B   CXorf56   CXorf66   CYLC1   CYSLTR1   DACH2   DANT2   DCAF12L1   DCAF12L2   DCX   DIAPH2   DOCK11   DRP2   ELF4   ENOX2   ESX1   F9   FAM122B   FAM122C   FAM133A   FAM199X   FGF13   FGF16   FHL1   FRMD7   FRMPD3   FTX   GLA   GLUD2   GPC3   GPC4   GPR101   GPR119   GPR174   GPRASP1   GPRASP2   GRIA3   GUCY2F   H2BW1   H2BW2   HDX   HMGN5   HNRNPH2   HPRT1   HS6ST2   HTATSF1   HTR2C   IGSF1   IL13RA1   IL13RA2   IL1RAPL2   INTS6L   IRS4   ITM2A   JPX   KCNE5   KIAA1210   KLHL13   KLHL4   LAMP2   LHFPL1   LONRF3   LPAR4   LRCH2   LUZP4   MAGEE1   MAGEE2   MAGT1   MAP7D3   MBNL3   MCF2   MCTS1   MID2   MIR106A   MIR19B2   MIR424   MIR448   MIR503   MMGT1   MORC4   MORF4L2   MOSPD1   NAP1L2   NAP1L3   NDUFA1   NEXMIF   NKAP   NKRF   NOX1   NRK   NUP62CL   NXF2   NXF2B   NXF3   NXF5   NXT2   OCRL   OR13H1   P2RY10   PABPC1L2A   PABPC1L2B   PABPC5   PAK3   PBDC1   PCDH11X   PCDH19   PGAM4   PGK1   PGRMC1   PHF6   PIH1D3   PLAC1   PLP1   PLS3   POF1B   POU3F4   PRPS1   PRR32   PSMD10   PWWP3B   RAB33A   RAB40A   RAB40AL   RAB9B   RADX   RAP2C   RBM41   RBMX   RBMX2   RBMXL3   RHOXF1   RHOXF2   RHOXF2B   RIPPLY1   RLIM   RNF113A   RNF128   RPA4   RPL36A   RPL36A-HNRNPH2   RPL39   RPS6KA6   RTL3   RTL4   RTL8A   RTL8B   RTL8C   RTL9   SAGE1   SASH3   SATL1   SEPTIN6   SERPINA7   SH2D1A   SH3BGRL   SLC16A2   SLC25A14   SLC25A43   SLC25A5   SLC25A53   SLC6A14   SLC9A6   SMARCA1   SMIM10   SOWAHD   SRPX2   STAG2   STK26   SYTL4   TAF7L   TAF9B   TBC1D8B   TBX22   TCEAL1   TCEAL2   TCEAL3   TCEAL4   TCEAL5   TCEAL6   TCEAL7   TCEAL8   TCEAL9   TCP11X2   TENM1   TENT5D   TEX13A   TEX13B   TFDP3   TGIF2LX   THOC2   TIMM8A   TMEM164   TMEM255A   TMEM31   TMEM35A   TMSB15A   TMSB15B   TNMD   TRMT2B   TRPC5   TRPC5OS   TSC22D3   TSIX   TSPAN6   UBE2A   UPF3B   UPRT   USP26   UTP14A   VGLL1   VSIG1   WDR44   XIAP   XIST   XKRX   XPNPEP2   ZBTB33   ZCCHC12   ZCCHC13   ZCCHC18   ZDHHC15   ZDHHC9   ZIC3   ZMAT1   ZNF280C   ZNF449   ZNF711   ZNF75D  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37X72,224,362 - 139,262,228CLINVAR
Cytogenetic MapXXq13.2-27.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12853102
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2019-10-15
Status: ACTIVE



NHLBI Logo

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