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Variant : CV163054 (GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604)) Homo sapiens

Symbol: CV163054
Name: GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604)
Condition: See cases [RCV000141742]
Clinical Significance: pathogenic
Last Evaluated: 04/29/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABCB7   ACSL4   AGTR2   ALAS2   ALG13   AMER1   AMMECR1   AMOT   APEX2   APOOL   AR   ARHGEF9   ARHGEF9-IT1   ARL13A   ARMCX1   ARMCX2   ARMCX3   ARMCX3-AS1   ARMCX4   ARMCX5   ARMCX5-GPRASP2   ARMCX6   ARR3   ASB12   ATG4A   ATP7A   ATRX   AWAT1   AWAT2   BEX1   BEX2   BEX3   BEX4   BEX5   BHLHB9   BMP15   BRWD3   BTK   CAPN6   CCNB3   CDX4   CENPI   CENPVL1   CENPVL2   CENPVL3   CHIC1   CHM   CHRDL1   CITED1   CLDN2   COL4A5   COL4A6   COX7B   CPXCR1   CSTF2   CT83   CXCR3   CXorf49   CXorf49B   CXorf65   CYLC1   CYSLTR1   DACH2   DANT1   DANT2   DCX   DGAT2L6   DGKK   DIAPH2   DIAPH2-AS1   DLG3   DLG3-AS1   DMRTC1   DMRTC1B   DOCK11   DRP2   EDA   EDA2R   EFNB1   ERCC6L   ESX1   EZHIP   FAAH2   FAM104B   FAM120C   FAM133A   FAM155B   FAM156A   FAM156B   FAM199X   FAM226A   FAM226B   FAM236A   FAM236B   FAM236C   FAM236D   FGD1   FGF16   FLJ44635   FOXO4   FOXR2   FRMPD3   FRMPD3-AS1   FTX   GCNA   GDPD2   GJB1   GLA   GNL3L   GPR173   GPR174   GPRASP1   GPRASP2   GSPT2   GUCY2F   H2BW1   H2BW2   HDAC8   HDX   HEPH   HMGN5   HNRNPH2   HSD17B10   HTR2C   HUWE1   IGBP1   IL13RA1   IL13RA2   IL1RAPL2   IL2RG   IQSEC2   IRS4   ITGB1BP2   ITIH6   ITM2A   JPX   KANTR   KCNE5   KDM5C   KIAA1210   KIF4A   KLF8   KLHL13   KLHL4   LAS1L   LHFPL1   LINC00269   LINC00630   LINC00891   LINC01278   LINC01284   LINC01285   LINC01496   LINC02589   LONRF3   LPAR4   LRCH2   LUZP4   MAGED1   MAGED2   MAGED4   MAGED4B   MAGEE1   MAGEE2   MAGEH1   MAGT1   MED12   MID2   MIR1264   MIR1277   MIR1298   MIR1321   MIR1468   MIR1911   MIR1912   MIR223   MIR325   MIR325HG   MIR361   MIR374A   MIR374B   MIR374C   MIR384   MIR3978   MIR421   MIR4328   MIR4329   MIR448   MIR4536-1   MIR4536-2   MIR545   MIR548AN   MIR548I4   MIR548M   MIR652   MIR676   MIR6857   MIR6894   MIR6895   MIR764   MIR8088   MIR98   MIRLET7F2   MORC4   MORF4L2   MORF4L2-AS1   MSN   MTMR8   MTRNR2L10   NAP1L2   NAP1L3   NBDY   NCBP2L   NEXMIF   NHSL2   NLGN3   NLRP2B   NONO   NOX1   NRK   NUDT10   NUDT11   NUP62CL   NXF2   NXF2B   NXF3   NXF5   NXT2   OGT   OPHN1   OTUD6A   P2RY10   P2RY4   PABPC1L2A   PABPC1L2B   PABPC1L2B-AS1   PABPC5   PABPC5-AS1   PAGE2   PAGE2B   PAGE3   PAGE5   PAK3   PBDC1   PCDH11X   PCDH19   PDZD11   PFKFB1   PGAM4   PGK1   PGRMC1   PHF8   PHKA1   PHKA1-AS1   PIH1D3   PIN4   PJA1   PLP1   PLS3   PLS3-AS1   POF1B   POU3F4   PRPS1   PSMD10   PWWP3B   RAB40A   RAB40AL   RAB41   RAB9B   RADX   RBM41   RBMXL3   RIBC1   RIPPLY1   RLIM   RNF128   RPA4   RPL36A   RPL36A-HNRNPH2   RPS4X   RPS6KA6   RRAGB   RTL3   RTL4   RTL5   RTL9   SATL1   SERPINA7   SERTM2   SH3BGRL   SHROOM4   SLC16A2   SLC25A53   SLC6A14   SLC7A3   SMC1A   SNORA109   SNORA11   SNORA11D   SNORA11E   SNORA11G   SNORA35   SNORA35B   SNORD3E   SNORD96B   SNX12   SPANXN5   SPIN2A   SPIN2B   SPIN3   SPIN4   SRPX2   SSX2   SSX2B   SSX7   STARD8   SYTL4   TAF1   TAF7L   TAF9B   TBC1D8B   TBX22   TCEAL1   TCEAL2   TCEAL3   TCEAL4   TCEAL5   TCEAL6   TCEAL7   TCEAL8   TCEAL9   TCP11X1   TCP11X2   TENT5D   TEX11   TEX13A   TEX13B   TGIF2LX   TIMM8A   TMEM164   TMEM31   TMEM35A   TMSB15A   TMSB15B   TMSB15B-AS1   TNMD   TRMT2B   TRO   TRPC5   TRPC5OS   TSC22D3   TSIX   TSPAN6   TSPYL2   TSR2   UBQLN2   UPRT   USP51   VSIG1   VSIG4   WDR44   WNK3   XACT   XAGE1A   XAGE1B   XAGE2   XAGE3   XAGE5   XIST   XKRX   YIPF6   ZC3H12B   ZC4H2   ZCCHC12   ZCCHC13   ZCCHC18   ZDHHC15   ZMAT1   ZMYM3   ZNF711   ZXDA   ZXDB  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_50289384)_(119297604_?)del
NC_000023.10:g.(?_50032384)_(118431567_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38X50,289,384 - 119,297,604CLINVAR
GRCh37X50,032,384 - 118,431,567CLINVAR
Build 36X50,049,124 - 118,315,595CLINVAR
Cytogenetic MapXXp11.22-q24CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9489265
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-10-08
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.