Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV162499 (GRCh38/hg38 Xp22.33-11.4(chrX:3909315-38682287)x3) Homo sapiens

Symbol: CV162499
Name: GRCh38/hg38 Xp22.33-11.4(chrX:3909315-38682287)x3
Condition: See cases [RCV000141261]
Clinical Significance: uncertain significance
Last Evaluated: 09/16/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ACE2   ACOT9   ADGRG2   AMELX   ANOS1   AP1S2   APOO   ARHGAP6   ARX   ASB11   ASB9   ATXN3L   BCLAF3   BEND2   BMX   CA5B   CBLL2   CDKL5   CFAP47   CLCN4   CLDN34   CLTRN   CNKSR2   CTPS2   CXorf21   CXorf58   CYBB   DCAF8L1   DCAF8L2   DDX53   DMD   DYNLT3   EGFL6   EIF1AX   EIF1AX-AS1   EIF2S3   FAM47A   FAM47B   FAM47C   FAM9A   FAM9B   FAM9C   FANCB   FRMPD4   FTHL17   FTHL18   GEMIN8   GK   GLRA2   GPM6B   GPR143   GRPR   H2AP   HCCS   IL1RAPL1   INE2   KLHL15   KLHL34   LANCL3   LINC01203   LINC01456   LINC02154   MAGEB1   MAGEB10   MAGEB16   MAGEB17   MAGEB18   MAGEB2   MAGEB3   MAGEB4   MAGEB5   MAGEB6   MAP3K15   MAP7D2   MBTPS2   MID1   MIR23C   MIR3915   MIR4666B   MIR4767   MIR4768   MIR4770   MIR548AJ2   MIR548AM   MIR548AX   MIR548F5   MIR6086   MIR6134   MIR651   MOSPD2   MSL3   NHS   NHS-AS1   NLGN4X   NR0B1   OFD1   OTC   PCYT1B   PCYT1B-AS1   PDHA1   PDK3   PHEX   PHEX-AS1   PHKA2   PHKA2-AS1   PIGA   PIR   PNPLA4   POLA1   PPEF1   PPEF1-AS1   PPP4R3C   PRDX4   PRPS2   PRRG1   PTCHD1   PTCHD1-AS   PUDP   RAB9A   RAI2   RBBP7   REPS2   RPGR   RPS6KA3   RS1   S100G   SAT1   SCARNA23   SCARNA9L   SCML1   SCML2   SH3KBP1   SHROOM2   SMPX   SMS   SRPX   STS   SUPT20HL1   SUPT20HL2   SYAP1   SYTL5   TAB3   TAB3-AS1   TBL1X   TCEANC   TLR7   TLR8   TLR8-AS1   TMEM47   TMSB4X   TRAPPC2   TRI-GAT1-3   TRV-TAC1-2   TSPAN7   TXLNG   VCX   VCX2   VCX3A   VCX3B   VEGFD   WWC3   XK   YY2   ZFX   ZFX-AS1   ZRSR2  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_3909315)_(38682287_?)dup
NC_000023.10:g.(?_3827356)_(38541541_?)dup
NC_000023.9:g.(?_3837356)_(38426485_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X3,909,315 - 38,682,287CLINVAR
GRCh37X3,827,356 - 38,541,541CLINVAR
Build 36X3,837,356 - 38,426,485CLINVAR
Cytogenetic MapXXp22.33-11.4CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9488787
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-09-10
Status: ACTIVE



NHLBI Logo

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