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Variant : CV73154 (GRCh38/hg38 Xp22.33-11.3(chrX:675360-46016699)x3) Homo sapiens

Symbol: CV73154
Name: GRCh38/hg38 Xp22.33-11.3(chrX:675360-46016699)x3
Condition: Global developmental delay [RCV000052328]|See cases [RCV000052328]
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   AKAP17A   AMELX   ANOS1   AP1S2   APOO   ARHGAP6   ARSD   ARSD-AS1   ARSF   ARSH   ARSL   ARX   ASB11   ASB9   ASMT   ASMTL   ASMTL-AS1   ATP6AP2   ATXN3L   BCLAF3   BCOR   BEND2   BMX   CA5B   CASK   CBLL2   CD99   CDKL5   CFAP47   CLCN4   CLDN34   CLTRN   CNKSR2   CRLF2   CSF2RA   CTPS2   CXorf21   CXorf38   CXorf58   CYBB   DCAF8L1   DCAF8L2   DDX3X   DDX53   DHRSX   DIPK2B   DMD   DUSP21   DYNLT3   EFHC2   EGFL6   EIF1AX   EIF1AX-AS1   EIF2S3   FAM47A   FAM47B   FAM47C   FAM9A   FAM9B   FAM9C   FANCB   FRMPD4   FTHL17   FTHL18   FUNDC1   GEMIN8   GK   GLRA2   GPM6B   GPR143   GPR34   GPR82   GRPR   GYG2   H2AP   HCCS   IL1RAPL1   IL3RA   INE2   KDM6A   KLHL15   KLHL34   LANCL3   LINC00102   LINC00106   LINC01203   LINC01204   LINC01281   LINC01282   LINC01456   LINC01546   LINC02154   LINC02595   LINC02601   MAGEB1   MAGEB10   MAGEB16   MAGEB17   MAGEB18   MAGEB2   MAGEB3   MAGEB4   MAGEB5   MAGEB6   MAOA   MAOB   MAP3K15   MAP7D2   MBTPS2   MED14   MED14OS   MID1   MID1IP1   MID1IP1-AS1   MIR1587   MIR221   MIR222   MIR23C   MIR3690   MIR3915   MIR3937   MIR4666B   MIR4767   MIR4768   MIR4770   MIR548AJ2   MIR548AM   MIR548AX   MIR548F5   MIR6086   MIR6089   MIR6134   MIR651   MOSPD2   MPC1L   MSL3   MXRA5   NDP   NDP-AS1   NHS   NHS-AS1   NLGN4X   NR0B1   NYX   OFD1   OTC   P2RY8   PCYT1B   PCYT1B-AS1   PDHA1   PDK3   PHEX   PHEX-AS1   PHKA2   PHKA2-AS1   PIGA   PINCR   PIR   PNPLA4   POLA1   PPEF1   PPEF1-AS1   PPP1R2C   PPP4R3C   PRDX4   PRKX   PRKX-AS1   PRPS2   PRRG1   PTCHD1   PTCHD1-AS   PUDP   RAB9A   RAI2   RBBP7   REPS2   RPGR   RPS6KA3   RS1   S100G   SAT1   SCARNA23   SCARNA9L   SCML1   SCML2   SH3KBP1   SHROOM2   SLC25A6   SMPX   SMS   SNORA48B   SRPX   STS   SUPT20HL1   SUPT20HL2   SYAP1   SYTL5   TAB3   TAB3-AS1   TBL1X   TCEANC   TLR7   TLR8   TLR8-AS1   TMEM47   TMSB4X   TRAPPC2   TRI-GAT1-1   TRI-GAT1-2   TRI-GAT1-3   TRV-TAC1-2   TSPAN7   TXLNG   USP9X   VCX   VCX2   VCX3A   VCX3B   VEGFD   WWC3   XG   XK   YY2   ZBED1   ZFX   ZFX-AS1   ZRSR2  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_675360)_(46016699_?)dup
NC_000023.10:g.(?_636095)_(45876134_?)dup
NC_000023.9:g.(?_556095)_(45761078_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X675,360 - 46,016,699CLINVAR
GRCh37X636,095 - 45,876,134CLINVAR
Build 36X556,095 - 45,761,078CLINVAR
Cytogenetic MapXXp22.33-11.3CLINVAR
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: 8619321
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.