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Variant : CV73797 (GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1) Homo sapiens

Symbol: CV73797
Name: GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1
Condition: Global developmental delay [RCV000053007]|See cases [RCV000053007]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ACE2   ACOT9   ADGRG2   AKAP4   ALAS2   AMELX   ANOS1   AP1S2   APEX2   APOO   ARAF   ARHGAP6   ARSD   ARSD-AS1   ARSF   ARSH   ARSL   ARX   ASB11   ASB9   ATP6AP2   ATXN3L   BCLAF3   BCOR   BEND2   BMP15   BMX   CA5B   CACNA1F   CASK   CBLL2   CCDC120   CCDC22   CCNB3   CDK16   CDKL5   CENPVL1   CENPVL2   CENPVL3   CFAP47   CFP   CHST7   CLCN4   CLCN5   CLDN34   CLTRN   CNKSR2   CTPS2   CXorf21   CXorf38   CXorf58   CYBB   DCAF8L1   DCAF8L2   DDX3X   DDX53   DGKK   DIPK2B   DMD   DUSP21   DYNLT3   EBP   EFHC2   EGFL6   EIF1AX   EIF1AX-AS1   EIF2S3   ELK1   ERAS   EZHIP   FAAH2   FAM104B   FAM120C   FAM156A   FAM156B   FAM47A   FAM47B   FAM47C   FAM9A   FAM9B   FAM9C   FANCB   FGD1   FLICR   FOXP3   FOXR2   FRMPD4   FTHL17   FTHL18   FTSJ1   FUNDC1   GAGE1   GAGE10   GAGE12B   GAGE12C   GAGE12D   GAGE12E   GAGE12F   GAGE12G   GAGE12H   GAGE12I   GAGE12J   GAGE13   GAGE2A   GAGE2B   GAGE2C   GAGE2D   GAGE2E   GAGE8   GATA1   GEMIN8   GK   GLOD5   GLRA2   GNL3L   GPKOW   GPM6B   GPR143   GPR173   GPR34   GPR82   GRIPAP1   GRPR   GSPT2   GYG2   H2AP   HCCS   HDAC6   HSD17B10   HUWE1   IL1RAPL1   INE1   INE2   IQSEC2   ITIH6   JADE3   KANTR   KCND1   KDM5C   KDM6A   KLF8   KLHL15   KLHL34   KRBOX4   LANCL3   LINC01186   LINC01203   LINC01204   LINC01281   LINC01282   LINC01284   LINC01456   LINC01496   LINC01545   LINC01546   LINC01560   LINC02154   LINC02595   LINC02601   MAGEB1   MAGEB10   MAGEB16   MAGEB17   MAGEB18   MAGEB2   MAGEB3   MAGEB4   MAGEB5   MAGEB6   MAGED1   MAGED2   MAGED4   MAGED4B   MAGEH1   MAGIX   MAOA   MAOB   MAP3K15   MAP7D2   MBTPS2   MED14   MED14OS   MID1   MID1IP1   MID1IP1-AS1   MIR1587   MIR188   MIR221   MIR222   MIR23C   MIR362   MIR3915   MIR3937   MIR4536-1   MIR4536-2   MIR4666B   MIR4767   MIR4768   MIR4769   MIR4770   MIR500A   MIR500B   MIR501   MIR502   MIR532   MIR548AJ2   MIR548AM   MIR548AX   MIR548F5   MIR6086   MIR6134   MIR651   MIR660   MIR6857   MIR6894   MIR6895   MIR8088   MIR98   MIRLET7F2   MOSPD2   MPC1L   MSL3   MTRNR2L10   MXRA5   NBDY   NDP   NDP-AS1   NDUFB11   NHS   NHS-AS1   NLGN4X   NLRP2B   NR0B1   NUDT10   NUDT11   NYX   OFD1   OTC   OTUD5   PAGE1   PAGE2   PAGE2B   PAGE3   PAGE4   PAGE5   PCSK1N   PCYT1B   PCYT1B-AS1   PDHA1   PDK3   PFKFB1   PHEX   PHEX-AS1   PHF8   PHKA2   PHKA2-AS1   PIGA   PIM2   PINCR   PIR   PLP2   PNPLA4   POLA1   PORCN   PPEF1   PPEF1-AS1   PPP1R2C   PPP1R3F   PPP4R3C   PQBP1   PRAF2   PRDX4   PRICKLE3   PRKX   PRKX-AS1   PRPS2   PRRG1   PTCHD1   PTCHD1-AS   PUDP   RAB9A   RAI2   RBBP7   RBM10   RBM3   REPS2   RGN   RIBC1   RP2   RPGR   RPS6KA3   RRAGB   RS1   S100G   SAT1   SCARNA23   SCARNA9L   SCML1   SCML2   SH3KBP1   SHROOM2   SHROOM4   SLC35A2   SLC38A5   SLC9A7   SMC1A   SMPX   SMS   SNORA109   SNORA11   SNORA11C   SNORA11D   SNORA11E   SNORA11G   SNORA48B   SPACA5   SPACA5B   SPANXN5   SPIN2A   SPIN2B   SPIN3   SRPX   SSX1   SSX2   SSX2B   SSX3   SSX4   SSX4B   SSX5   SSX7   STS   SUPT20HL1   SUPT20HL2   SUV39H1   SYAP1   SYN1   SYP   SYP-AS1   SYTL5   TAB3   TAB3-AS1   TBC1D25   TBL1X   TCEANC   TFE3   TIMM17B   TIMP1   TLR7   TLR8   TLR8-AS1   TMEM47   TMSB4X   TRAPPC2   TRI-GAT1-1   TRI-GAT1-2   TRI-GAT1-3   TRO   TRV-TAC1-2   TSPAN7   TSPYL2   TSR2   TXLNG   UBA1   UBQLN2   USP11   USP27X   USP27X-AS1   USP51   USP9X   UXT   UXT-AS1   VCX   VCX2   VCX3A   VCX3B   VEGFD   WAS   WDR13   WDR45   WNK3   WWC3   XAGE1A   XAGE1B   XAGE2   XAGE3   XAGE5   XG   XK   YY2   ZFX   ZFX-AS1   ZNF157   ZNF182   ZNF41   ZNF630   ZNF630-AS1   ZNF674   ZNF674-AS1   ZNF81   ZRSR2   ZXDA   ZXDB  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_2769041)_(58055036_?)del
NC_000023.10:g.(?_2687082)_(58081470_?)del
NC_000023.9:g.(?_2697082)_(58098195_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38X2,769,041 - 58,055,036CLINVAR
GRCh37X2,687,082 - 58,081,470CLINVAR
Build 36X2,697,082 - 58,098,195CLINVAR
Cytogenetic MapXXp22.33-11.21CLINVAR
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
 
CRRD Object Information
CRRD ID: 8619972
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-09-10
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.