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Variant : CV72566 (GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1) Homo sapiens

Symbol: CV72566
Name: GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1
Condition: Global developmental delay [RCV000051713]|See cases [RCV000051713]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|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   CSAG2   CSAG3   CSTF2   CT45A1   CT45A10   CT45A2   CT45A3   CT45A5   CT45A6   CT45A7   CT45A8   CT45A9   CT47A1   CT47A10   CT47A11   CT47A12   CT47A2   CT47A3   CT47A4   CT47A5   CT47A6   CT47A7   CT47A8   CT47A9   CT47B1   CT55   CT83   CTAG1A   CTAG1B   CTAG2   CUL4B   CXorf51A   CXorf51B   CXorf56   CXorf66   DANT1   DANT2   DCAF12L1   DCAF12L2   DCX   DKC1   DNAAF6   DNASE1L1   DOCK11   DRP2   DUSP9   ELF4   EMD   ENOX2   EOLA1   EOLA2   ESX1   ETDA   ETDB   ETDC   F8   F8A1   F8A2   F8A3   F9   FAM122B   FAM122C   FAM199X   FAM223A   FAM223B   FAM3A   FAM50A   FATE1   FGF13   FGF13-AS1   FHL1   FIRRE   FLNA   FMR1   FMR1-AS1   FMR1NB   FRMD7   FRMPD3   FRMPD3-AS1   FUNDC2   G6PD   GAB3   GABRA3   GABRE   GABRQ   GDI1   GLA   GLUD2   GPC3   GPC3-AS1   GPC4   GPR101   GPR119   GPR50   GPR50-AS1   GPRASP1   GPRASP2   GRIA3   GUCY2F   H2AB1   H2AB2   H2AB3   H2BW1   H2BW2   HAUS7   HCFC1   HCFC1-AS1   HMGB3   HNRNPH2   HPRT1   HS6ST2   HS6ST2-AS1   HSFX1   HSFX2   HSFX3   HSFX4   HTATSF1   HTR2C   IDH3G   IDS   IGSF1   IKBKG   IL13RA1   IL13RA2   IL1RAPL2   INTS6L   INTS6L-AS1   IRAK1   IRS4   KCNE5   KIAA1210   KLHL13   L1CAM   LAGE3   LAMP2   LDOC1   LHFPL1   LINC00629   LINC00630   LINC00632   LINC00850   LINC00892   LINC00893   LINC00894   LINC01201   LINC01285   LINC01402   LINC02243   LINC02589   LONRF3   LRCH2   LUZP4   MAGEA1   MAGEA10   MAGEA10-MAGEA5   MAGEA11   MAGEA12   MAGEA2   MAGEA2B   MAGEA3   MAGEA4   MAGEA4-AS1   MAGEA5   MAGEA6   MAGEA8   MAGEA8-AS1   MAGEA9   MAGEA9B   MAGEC1   MAGEC2   MAGEC3   MAMLD1   MAP7D3   MBNL3   MCF2   MCTS1   MECP2   MID2   MIR105-1   MIR105-2   MIR106A   MIR1184-1   MIR1184-2   MIR1184-3   MIR12129   MIR1264   MIR1277   MIR1298   MIR18B   MIR1911   MIR1912   MIR19B2   MIR20B   MIR2114   MIR224   MIR3202-1   MIR3202-2   MIR320D2   MIR363   MIR3672   MIR3978   MIR424   MIR4329   MIR4330   MIR448   MIR450A1   MIR450A2   MIR450B   MIR452   MIR503   MIR503HG   MIR504   MIR505   MIR506   MIR507   MIR508   MIR509-1   MIR509-2   MIR509-3   MIR510   MIR513A1   MIR513A2   MIR513B   MIR513C   MIR514A1   MIR514A2   MIR514A3   MIR514B   MIR542   MIR548AN   MIR652   MIR664B   MIR6858   MIR718   MIR764   MIR766   MIR767   MIR888   MIR890   MIR891A   MIR891B   MIR892A   MIR892B   MIR892C   MIR92A2   MIR934   MMGT1   MORC4   MORF4L2   MORF4L2-AS1   MOSPD1   MPP1   MTCP1   MTM1   MTMR1   NAA10   NCBP2L   NDUFA1   NKAP   NKRF   NOX1   NRK   NSDHL   NUP62CL   NXF2   NXF2B   NXF3   NXF5   NXT2   OCRL   OPN1LW   OPN1MW   OPN1MW2   OPN1MW3   OR13H1   PAK3   PASD1   PDZD4   PGRMC1   PHF6   PLAC1   PLP1   PLS3   PLS3-AS1   PLXNA3   PLXNB3   PNCK   PNMA3   PNMA5   PNMA6A   PNMA6E   PNMA6F   PRPS1   PRR32   PRRG3   PSMD10   PWWP3B   RAB33A   RAB39B   RAB40A   RAB40AL   RAB9B   RADX   RAP2C   RAP2C-AS1   RBM41   RBMX   RBMX2   RBMXL3   RENBP   RHOXF1   RHOXF1-AS1   RHOXF2   RHOXF2B   RIPPLY1   RNF113A   RNF128   RPL10   RPL36A   RPL36A-HNRNPH2   RPL39   RTL4   RTL8A   RTL8B   RTL8C   RTL9   SAGE1   SASH3   SEPTIN6   SERPINA7   SERTM2   SH2D1A   SLC10A3   SLC25A14   SLC25A43   SLC25A5   SLC25A5-AS1   SLC25A53   SLC6A14   SLC6A8   SLC9A6   SLITRK2   SLITRK4   SMARCA1   SMIM10   SMIM10L2A   SMIM10L2B   SMIM10L2B-AS1   SMIM9   SNORA35   SNORA35B   SNORA36A   SNORA56   SNORA69   SNORA70   SNORD61   SNORD96B   SOWAHD   SOX3   SPANXA1   SPANXA2   SPANXA2-OT1   SPANXB1   SPANXC   SPANXD   SPANXN1   SPANXN2   SPANXN3   SPANXN4   SPRY3   SRPK3   SRPX2   SSR4   STAG2   STK26   SYTL4   TAF7L   TAZ   TBC1D8B   TCEAL1   TCEAL2   TCEAL3   TCEAL4   TCEAL5   TCEAL6   TCEAL7   TCEAL8   TCEAL9   TCP11X1   TCP11X2   TENM1   TEX13A   TEX13B   TEX13C   TEX13D   TEX28   TFDP3   THOC2   TIMM8A   TKTL1   TMEM164   TMEM185A   TMEM187   TMEM255A   TMEM31   TMEM35A   TMLHE   TMLHE-AS1   TMSB15A   TMSB15B   TMSB15B-AS1   TNMD   TREX2   TRMT2B   TRPC5   TRPC5OS   TSC22D3   TSPAN6   UBE2A   UBE2NL   UBL4A   UPF3B   USP26   UTP14A   VBP1   VGLL1   VMA21   VSIG1   WDR44   XACT   XIAP   XKRX   XPNPEP2   ZBTB33   ZCCHC12   ZCCHC18   ZDHHC9   ZFP92   ZIC3   ZMAT1   ZNF185   ZNF275   ZNF280C   ZNF449   ZNF75D  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_100524562)_(155669954_?)del
Human AssemblyChrPosition (strand)Source
GRCh38X100,524,562 - 155,669,954CLINVAR
GRCh37X99,779,559 - 154,785,891CLINVAR
Build 36X99,666,215 - 154,552,809CLINVAR
Cytogenetic MapXXq22.1-28CLINVAR
Prevalence: mental retardation is caused by aberrant copy numbers of subtelomeric regions in 3-8% of all cases.

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 8618726
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-21
Status: ACTIVE


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