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Variant : CV73784 (GRCh38/hg38 Xp22.33-22.11(chrX:253129-23023165)x1) Homo sapiens

Symbol: CV73784
Name: GRCh38/hg38 Xp22.33-22.11(chrX:253129-23023165)x1
Condition: Short stature [RCV000052993]|See cases [RCV000052993]
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   ADGRG2   AKAP17A   AMELX   ANOS1   AP1S2   ARHGAP6   ARSD   ARSD-AS1   ARSF   ARSH   ARSL   ASB11   ASB9   ASMT   ASMTL   ASMTL-AS1   ATXN3L   BCLAF3   BEND2   BMX   CA5B   CBLL2   CD99   CDKL5   CLCN4   CLDN34   CLTRN   CNKSR2   CRLF2   CSF2RA   CTPS2   DDX53   DHRSX   EGFL6   EIF1AX   EIF1AX-AS1   FAM9A   FAM9B   FAM9C   FANCB   FRMPD4   GEMIN8   GLRA2   GPM6B   GPR143   GRPR   GTPBP6   GYG2   HCCS   IL3RA   INE2   KLHL34   LINC00102   LINC00106   LINC00685   LINC01203   LINC01456   LINC01546   LINC02154   MAGEB17   MAP3K15   MAP7D2   MBTPS2   MID1   MIR23C   MIR3690   MIR4767   MIR4768   MIR4770   MIR548AM   MIR548AX   MIR6086   MIR6089   MIR651   MOSPD2   MSL3   MXRA5   NHS   NHS-AS1   NLGN4X   OFD1   P2RY8   PDHA1   PHEX   PHEX-AS1   PHKA2   PHKA2-AS1   PIGA   PIR   PLCXD1   PNPLA4   PPEF1   PPEF1-AS1   PPP2R3B   PRKX   PRKX-AS1   PRPS2   PTCHD1-AS   PUDP   RAB9A   RAI2   RBBP7   REPS2   RPS6KA3   RS1   S100G   SCARNA9L   SCML1   SCML2   SH3KBP1   SHOX   SHROOM2   SLC25A6   SMPX   SMS   SNORA48B   STS   SYAP1   TBL1X   TCEANC   TLR7   TLR8   TLR8-AS1   TMSB4X   TRAPPC2   TRI-GAT1-1   TRI-GAT1-2   TRI-GAT1-3   TRV-TAC1-2   TXLNG   VCX   VCX2   VCX3A   VCX3B   VEGFD   WWC3   XG   YY2   ZBED1   ZRSR2  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_253129)_(23023165_?)del
NC_000023.10:g.(?_169796)_(23041282_?)del
NC_000023.9:g.(?_109796)_(22951203_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38X253,129 - 23,023,165CLINVAR
GRCh37X169,796 - 23,041,282CLINVAR
Build 36X109,796 - 22,951,203CLINVAR
Cytogenetic MapXXp22.33-22.11CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8619958
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.