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Variant : CV165183 (GRCh38/hg38 Xp22.33-21.1(chrX:251879-35885004)x1) Homo sapiens

Symbol: CV165183
Name: GRCh38/hg38 Xp22.33-21.1(chrX:251879-35885004)x1
Condition: See cases [RCV000143496]
Clinical Significance: pathogenic
Last Evaluated: 07/01/2013
Review Status: classified by 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   ATXN3L   BCLAF3   BEND2   BMX   CA5B   CBLL2   CD99   CDKL5   CLCN4   CLDN34   CLTRN   CNKSR2   CRLF2   CSF2RA   CTPS2   CXorf21   CXorf58   DCAF8L1   DCAF8L2   DDX53   DHRSX   DMD   EGFL6   EIF1AX   EIF1AX-AS1   EIF2S3   FAM47A   FAM47B   FAM9A   FAM9B   FAM9C   FANCB   FRMPD4   FTHL17   GEMIN8   GK   GLRA2   GPM6B   GPR143   GRPR   GTPBP6   GYG2   HCCS   IL1RAPL1   IL3RA   INE2   KLHL15   KLHL34   LINC00102   LINC00106   LINC00685   LINC01203   LINC01456   LINC01546   LINC02154   MAGEB1   MAGEB10   MAGEB16   MAGEB17   MAGEB18   MAGEB2   MAGEB3   MAGEB4   MAGEB5   MAGEB6   MAP3K15   MAP7D2   MBTPS2   MID1   MIR23C   MIR3690   MIR3915   MIR4666B   MIR4767   MIR4768   MIR4770   MIR548AM   MIR548AX   MIR548F5   MIR6086   MIR6089   MIR6134   MIR651   MOSPD2   MSL3   MXRA5   NHS   NHS-AS1   NLGN4X   NR0B1   OFD1   P2RY8   PCYT1B   PCYT1B-AS1   PDHA1   PDK3   PHEX   PHEX-AS1   PHKA2   PHKA2-AS1   PIGA   PIR   PLCXD1   PNPLA4   POLA1   PPEF1   PPEF1-AS1   PPP2R3B   PPP4R3C   PRDX4   PRKX   PRKX-AS1   PRPS2   PTCHD1   PTCHD1-AS   PUDP   RAB9A   RAI2   RBBP7   REPS2   RPS6KA3   RS1   S100G   SAT1   SCARNA23   SCARNA9L   SCML1   SCML2   SH3KBP1   SHOX   SHROOM2   SLC25A6   SMPX   SMS   SNORA48B   STS   SUPT20HL1   SUPT20HL2   SYAP1   TAB3   TAB3-AS1   TBL1X   TCEANC   TLR7   TLR8   TLR8-AS1   TMEM47   TMSB4X   TRAPPC2   TRI-GAT1-1   TRI-GAT1-2   TRI-GAT1-3   TRV-TAC1-2   TXLNG   VCX   VCX2   VCX3A   VCX3B   VEGFD   WWC3   XG   YY2   ZBED1   ZFX   ZFX-AS1   ZRSR2  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_251879)_(35885004_?)del
Human AssemblyChrPosition (strand)Source
GRCh38X251,879 - 35,885,004CLINVAR
GRCh37X168,546 - 35,903,121CLINVAR
Build 36X108,546 - 35,813,042CLINVAR
Cytogenetic MapXXp22.33-21.1CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9491094
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-24
Status: ACTIVE


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