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Variant : CV383029 (GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1) Homo sapiens

Symbol: CV383029
Name: GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1
Condition: See cases [RCV000448870]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ABCB7   ACSL4   ACTRT1   ADGRG4   AFF2   AGTR2   AIFM1   AKAP14   ALG13   AMER1   AMMECR1   AMOT   APLN   APOOL   AR   ARHGAP36   ARHGEF6   ARHGEF9   ARL13A   ARMCX1   ARMCX2   ARMCX3   ARMCX3-AS1   ARMCX4   ARMCX5   ARMCX5-GPRASP2   ARMCX6   ARR3   ASB12   ATG4A   ATP11C   ATP1B4   ATP7A   ATRX   AWAT1   AWAT2   BCORL1   BEX1   BEX2   BEX3   BEX4   BEX5   BHLHB9   BRS3   BRWD3   BTK   C1GALT1C1   CAPN6   CCDC160   CD40LG   CD99L2   CDR1   CDX4   CENPI   CHIC1   CHM   CHRDL1   CITED1   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   CXCR3   CXorf40A   CXorf40B   CXorf49   CXorf49B   CXorf51A   CXorf51B   CXorf56   CXorf65   CXorf66   CYLC1   CYSLTR1   DACH2   DANT2   DCAF12L1   DCAF12L2   DCX   DGAT2L6   DIAPH2   DLG3   DMRTC1   DMRTC1B   DOCK11   DRP2   EDA   EDA2R   EFNB1   ELF4   ENOX2   ERCC6L   ESX1   F9   FAAH2   FAM122B   FAM122C   FAM133A   FAM155B   FAM199X   FGF13   FGF16   FHL1   FMR1   FMR1-AS1   FMR1NB   FOXO4   FOXR2   FRMD7   FRMPD3   FTX   GCNA   GDPD2   GJB1   GLA   GLUD2   GPC3   GPC4   GPR101   GPR119   GPR174   GPRASP1   GPRASP2   GRIA3   GUCY2F   H2BW1   H2BW2   HDAC8   HDX   HEPH   HMGB3   HMGN5   HNRNPH2   HPRT1   HS6ST2   HSFX1   HSFX2   HTATSF1   HTR2C   IDS   IGBP1   IGSF1   IL13RA1   IL13RA2   IL1RAPL2   IL2RG   INTS6L   IRS4   ITGB1BP2   ITM2A   JPX   KCNE5   KIAA1210   KIF4A   KLF8   KLHL13   KLHL4   LAMP2   LAS1L   LDOC1   LHFPL1   LONRF3   LPAR4   LRCH2   LUZP4   MAGEA11   MAGEA8   MAGEA9   MAGEA9B   MAGEC1   MAGEC2   MAGEC3   MAGEE1   MAGEE2   MAGT1   MAMLD1   MAP7D3   MBNL3   MCF2   MCTS1   MED12   MID2   MIR106A   MIR19B2   MIR223   MIR424   MIR448   MIR503   MIR506   MIR508   MIR509-1   MIR509-3   MIR510   MMGT1   MORC4   MORF4L2   MOSPD1   MSN   MTM1   MTMR1   MTMR8   NAP1L2   NAP1L3   NDUFA1   NEXMIF   NHSL2   NKAP   NKRF   NLGN3   NONO   NOX1   NRK   NUP62CL   NXF2   NXF2B   NXF3   NXF5   NXT2   OCRL   OGT   OPHN1   OR13H1   OTUD6A   P2RY10   P2RY4   PABPC1L2A   PABPC1L2B   PABPC5   PAK3   PBDC1   PCDH11X   PCDH19   PDZD11   PGAM4   PGK1   PGRMC1   PHF6   PHKA1   PIH1D3   PIN4   PJA1   PLAC1   PLP1   PLS3   POF1B   POU3F4   PRPS1   PRR32   PSMD10   PWWP3B   RAB33A   RAB40A   RAB40AL   RAB41   RAB9B   RADX   RAP2C   RBM41   RBMX   RBMX2   RBMXL3   RHOXF1   RHOXF2   RHOXF2B   RIPPLY1   RLIM   RNF113A   RNF128   RPA4   RPL36A   RPL36A-HNRNPH2   RPL39   RPS4X   RPS6KA6   RRAGB   RTL3   RTL4   RTL5   RTL8A   RTL8B   RTL8C   RTL9   SAGE1   SASH3   SATL1   SEPTIN6   SERPINA7   SH2D1A   SH3BGRL   SLC16A2   SLC25A14   SLC25A43   SLC25A5   SLC25A53   SLC6A14   SLC7A3   SLC9A6   SLITRK2   SLITRK4   SMARCA1   SMIM10   SNX12   SOWAHD   SOX3   SPANXA1   SPANXA2   SPANXB1   SPANXC   SPANXD   SPANXN1   SPANXN2   SPANXN3   SPANXN4   SPIN2A   SPIN2B   SPIN3   SPIN4   SRPX2   STAG2   STARD8   STK26   SYTL4   TAF1   TAF7L   TAF9B   TBC1D8B   TBX22   TCEAL1   TCEAL2   TCEAL3   TCEAL4   TCEAL5   TCEAL6   TCEAL7   TCEAL8   TCEAL9   TCP11X2   TENM1   TENT5D   TEX11   TEX13A   TEX13B   TFDP3   TGIF2LX   THOC2   TIMM8A   TMEM164   TMEM185A   TMEM255A   TMEM31   TMEM35A   TMSB15A   TMSB15B   TNMD   TRMT2B   TRPC5   TRPC5OS   TSC22D3   TSIX   TSPAN6   UBE2A   UBE2NL   UBQLN2   UPF3B   UPRT   USP26   UTP14A   VGLL1   VSIG1   VSIG4   WDR44   XIAP   XIST   XKRX   XPNPEP2   YIPF6   ZBTB33   ZC3H12B   ZC4H2   ZCCHC12   ZCCHC13   ZCCHC18   ZDHHC15   ZDHHC9   ZIC3   ZMAT1   ZMYM3   ZNF280C   ZNF449   ZNF711   ZNF75D   ZXDA   ZXDB  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37X55,532,799 - 150,239,235CLINVAR
Cytogenetic MapXXp11.21-q28CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12853570
Created: 2017-04-11
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.