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Variant : CV382139 (GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1) Homo sapiens

Symbol: CV382139
Name: GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1
Condition: See cases [RCV000449365]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ABCD1   ACSL4   ACTRT1   ADGRG4   AFF2   AGTR2   AIFM1   AKAP14   ALG13   AMMECR1   AMOT   APLN   ARHGAP36   ARHGAP4   ARHGEF6   ARL13A   ARMCX1   ARMCX2   ARMCX3   ARMCX3-AS1   ARMCX4   ARMCX5   ARMCX5-GPRASP2   ARMCX6   ATG4A   ATP11C   ATP1B4   ATP2B3   ATP6AP1   AVPR2   BCAP31   BCORL1   BEX1   BEX2   BEX3   BEX4   BEX5   BGN   BHLHB9   BRCC3   BRS3   BTK   C1GALT1C1   CAPN6   CCDC160   CCNQ   CD40LG   CD99L2   CDR1   CENPI   CETN2   CHRDL1   CLDN2   CLIC2   CMC4   CNGA2   COL4A5   COL4A6   CSAG1   CSAG3   CSTF2   CT45A1   CT45A2   CT45A3   CT45A5   CT45A6   CT47A1   CT47A10   CT47A11   CT47A12   CT47A2   CT47A3   CT47A4   CT47A5   CT47A6   CT47A7   CT47A8   CT47A9   CT47B1   CT55   CT83   CTAG1A   CTAG1B   CTAG2   CUL4B   CXorf40A   CXorf40B   CXorf51A   CXorf51B   CXorf56   CXorf66   DANT2   DCAF12L1   DCAF12L2   DCX   DIAPH2   DKC1   DNASE1L1   DOCK11   DRP2   DUSP9   ELF4   EMD   ENOX2   ESX1   F8   F8A1   F8A2   F8A3   F9   FAM122B   FAM122C   FAM199X   FAM3A   FAM50A   FATE1   FGF13   FHL1   FLNA   FMR1   FMR1-AS1   FMR1NB   FRMD7   FRMPD3   FUNDC2   G6PD   GAB3   GABRA3   GABRE   GABRQ   GDI1   GLA   GLRA4   GLUD2   GPC3   GPC4   GPR101   GPR119   GPR50   GPR50-AS1   GPRASP1   GPRASP2   GRIA3   GUCY2F   H2AFB1   H2AFB2   H2AFB3   H2BFM   H2BFWT   HAUS7   HCFC1   HMGB3   HNRNPH2   HPRT1   HS6ST2   HSFX1   HSFX2   HTATSF1   HTR2C   IDH3G   IDS   IGSF1   IKBKG   IL13RA1   IL13RA2   IL1RAPL2   INTS6L   IRAK1   IRS4   KCNE5   KIAA1210   KLHL13   L1CAM   LAGE3   LAMP2   LDOC1   LHFPL1   LONRF3   LRCH2   LUZP4   MAGEA1   MAGEA10   MAGEA11   MAGEA12   MAGEA2   MAGEA2B   MAGEA3   MAGEA4   MAGEA5   MAGEA6   MAGEA8   MAGEA9   MAGEA9B   MAGEC1   MAGEC2   MAGEC3   MAMLD1   MAP7D3   MBNL3   MCF2   MCTS1   MECP2   MID2   MIR105-1   MIR105-2   MIR106A   MIR19B2   MIR224   MIR424   MIR448   MIR503   MIR506   MIR508   MIR509-1   MIR509-3   MIR510   MMGT1   MORC4   MORF4L2   MOSPD1   MPP1   MTCP1   MTM1   MTMR1   NAA10   NDUFA1   NKAP   NKRF   NOX1   NRK   NSDHL   NUP62CL   NXF2   NXF2B   NXF3   NXF5   NXT2   OCRL   OPN1LW   OPN1MW   OPN1MW2   OR13H1   PAK3   PASD1   PCDH19   PDZD4   PGRMC1   PHF6   PIH1D3   PLAC1   PLP1   PLS3   PLXNA3   PLXNB3   PNCK   PNMA3   PNMA5   PNMA6A   PNMA6E   PRPS1   PRR32   PRRG3   PSMD10   PWWP3B   RAB33A   RAB39B   RAB40A   RAB40AL   RAB9B   RADX   RAP2C   RBM41   RBMX   RBMX2   RBMXL3   RENBP   RHOXF1   RHOXF2   RHOXF2B   RIPPLY1   RNF113A   RNF128   RPA4   RPL10   RPL36A   RPL36A-HNRNPH2   RPL39   RTL4   RTL8A   RTL8B   RTL8C   RTL9   SAGE1   SASH3   SEPTIN6   SERPINA7   SH2D1A   SLC10A3   SLC25A14   SLC25A43   SLC25A5   SLC25A53   SLC6A14   SLC6A8   SLC9A6   SLITRK2   SLITRK4   SMARCA1   SMIM10   SMIM9   SOWAHD   SOX3   SPANXA1   SPANXA2   SPANXB1   SPANXC   SPANXD   SPANXN1   SPANXN2   SPANXN3   SPANXN4   SRPK3   SRPX2   SSR4   STAG2   STK26   SYTL4   TAF7L   TAZ   TBC1D8B   TCEAL1   TCEAL2   TCEAL3   TCEAL4   TCEAL5   TCEAL6   TCEAL7   TCEAL8   TCEAL9   TCP11X2   TENM1   TEX13A   TEX13B   TEX28   TFDP3   THOC2   TIMM8A   TKTL1   TMEM164   TMEM185A   TMEM187   TMEM255A   TMEM31   TMEM35A   TMLHE   TMSB15A   TMSB15B   TNMD   TREX2   TRMT2B   TRPC5   TRPC5OS   TSC22D3   TSPAN6   UBE2A   UBE2NL   UBL4A   UPF3B   USP26   UTP14A   VBP1   VGLL1   VMA21   VSIG1   WASIR1   WDR44   XIAP   XKRX   XPNPEP2   ZBTB33   ZCCHC12   ZCCHC18   ZDHHC9   ZFP92   ZIC3   ZMAT1   ZNF185   ZNF275   ZNF280C   ZNF449   ZNF75D  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.10:g.(?_94043221)_(155246585_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh37X94,043,221 - 155,246,585CLINVAR
Cytogenetic MapXXq21.33-28CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12854061
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2019-07-09
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.