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Variant : CV73776 (GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1) Homo sapiens

Symbol: CV73776
Name: GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052981]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052981]|See cases [RCV000052981]
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   ARAF   ARHGAP6   ARSD   ARSD-AS1   ARSF   ARSH   ARSL   ARX   ASB11   ASB9   ASMT   ASMTL   ASMTL-AS1   ATP6AP2   ATXN3L   BCLAF3   BCOR   BEND2   BMX   CA5B   CASK   CBLL2   CD99   CDK16   CDKL5   CFAP47   CFP   CHST7   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   ELK1   FAM47A   FAM47B   FAM47C   FAM9A   FAM9B   FAM9C   FANCB   FRMPD4   FTHL17   FTHL18   FUNDC1   GEMIN8   GK   GLRA2   GPM6B   GPR143   GPR34   GPR82   GRPR   GTPBP6   GYG2   H2AP   HCCS   IL1RAPL1   IL3RA   INE1   INE2   JADE3   KDM6A   KLHL15   KLHL34   KRBOX4   LANCL3   LINC00102   LINC00106   LINC00685   LINC01186   LINC01203   LINC01204   LINC01281   LINC01282   LINC01456   LINC01545   LINC01546   LINC01560   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   MIR4769   MIR4770   MIR548AJ2   MIR548AM   MIR548AX   MIR548F5   MIR6086   MIR6089   MIR6134   MIR651   MOSPD2   MPC1L   MSL3   MXRA5   NDP   NDP-AS1   NDUFB11   NHS   NHS-AS1   NLGN4X   NR0B1   NYX   OFD1   OTC   P2RY8   PCYT1B   PCYT1B-AS1   PDHA1   PDK3   PHEX   PHEX-AS1   PHKA2   PHKA2-AS1   PIGA   PINCR   PIR   PLCXD1   PNPLA4   POLA1   PPEF1   PPEF1-AS1   PPP1R2C   PPP2R3B   PPP4R3C   PRDX4   PRKX   PRKX-AS1   PRPS2   PRRG1   PTCHD1   PTCHD1-AS   PUDP   RAB9A   RAI2   RBBP7   RBM10   REPS2   RGN   RP2   RPGR   RPS6KA3   RS1   S100G   SAT1   SCARNA23   SCARNA9L   SCML1   SCML2   SH3KBP1   SHOX   SHROOM2   SLC25A6   SLC9A7   SMPX   SMS   SNORA11C   SNORA48B   SPACA5   SPACA5B   SRPX   SSX1   SSX5   STS   SUPT20HL1   SUPT20HL2   SYAP1   SYN1   SYTL5   TAB3   TAB3-AS1   TBL1X   TCEANC   TIMP1   TLR7   TLR8   TLR8-AS1   TMEM47   TMSB4X   TRAPPC2   TRI-GAT1-1   TRI-GAT1-2   TRI-GAT1-3   TRV-TAC1-2   TSPAN7   TXLNG   UBA1   USP11   USP9X   UXT   UXT-AS1   VCX   VCX2   VCX3A   VCX3B   VEGFD   WWC3   XG   XK   YY2   ZBED1   ZFX   ZFX-AS1   ZNF157   ZNF182   ZNF41   ZNF630   ZNF630-AS1   ZNF674   ZNF674-AS1   ZNF81   ZRSR2  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_10679)_(48344725_?)del
NC_000023.10:g.(?_60679)_(48204160_?)del
NC_000023.9:g.(?_679)_(48089104_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38X10,679 - 48,344,725CLINVAR
GRCh37X60,679 - 48,204,160CLINVAR
Build 36X679 - 48,089,104CLINVAR
Cytogenetic MapXXp22.33-11.23CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8619950
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.