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Variant : CV158091 (GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1) Homo sapiens

Symbol: CV158091
Name: GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1
Condition: See cases [RCV000137414]
Clinical Significance: pathogenic|likely benign
Last Evaluated: 04/14/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABCB7   AKAP4   ALAS2   AMER1   APEX2   APOOL   AR   ARHGEF9   ARHGEF9-IT1   ARL13A   ARMCX1   ARMCX2   ARMCX3   ARMCX3-AS1   ARMCX4   ARMCX6   ARR3   ASB12   ATP7A   ATRX   AWAT1   AWAT2   BEX5   BMP15   BRWD3   BTK   CACNA1F   CCDC22   CCNB3   CDX4   CENPI   CENPVL1   CENPVL2   CENPVL3   CHIC1   CHM   CITED1   CLCN5   COX7B   CPXCR1   CSTF2   CXCR3   CXorf49   CXorf49B   CXorf65   CYLC1   CYSLTR1   DACH2   DGAT2L6   DGKK   DIAPH2   DIAPH2-AS1   DLG3   DLG3-AS1   DMRTC1   DMRTC1B   DRP2   EDA   EDA2R   EFNB1   ERCC6L   EZHIP   FAAH2   FAM104B   FAM120C   FAM133A   FAM155B   FAM156A   FAM156B   FAM226A   FAM226B   FAM236A   FAM236B   FAM236C   FAM236D   FGD1   FGF16   FLICR   FLJ44635   FOXO4   FOXP3   FOXR2   FTX   GAGE1   GAGE10   GAGE12B   GAGE12C   GAGE12D   GAGE12E   GAGE12F   GAGE12G   GAGE12H   GAGE12I   GAGE12J   GAGE13   GAGE2A   GAGE2B   GAGE2C   GAGE2D   GAGE2E   GAGE8   GCNA   GDPD2   GJB1   GLA   GNL3L   GPKOW   GPR173   GPR174   GSPT2   HDAC8   HDX   HEPH   HMGN5   HNRNPH2   HSD17B10   HUWE1   IGBP1   IL2RG   IQSEC2   ITGB1BP2   ITIH6   ITM2A   JPX   KANTR   KDM5C   KIF4A   KLF8   KLHL4   LAS1L   LINC00269   LINC00891   LINC01278   LINC01284   LINC01496   LPAR4   MAGED1   MAGED2   MAGED4   MAGED4B   MAGEE1   MAGEE2   MAGEH1   MAGIX   MAGT1   MED12   MIR1321   MIR1468   MIR188   MIR223   MIR325   MIR325HG   MIR361   MIR362   MIR374A   MIR374B   MIR374C   MIR384   MIR421   MIR4328   MIR4536-1   MIR4536-2   MIR500A   MIR500B   MIR501   MIR502   MIR532   MIR545   MIR548I4   MIR548M   MIR660   MIR676   MIR6857   MIR6894   MIR6895   MIR8088   MIR98   MIRLET7F2   MSN   MTMR8   MTRNR2L10   NAP1L2   NAP1L3   NBDY   NEXMIF   NHSL2   NLGN3   NLRP2B   NONO   NOX1   NUDT10   NUDT11   NXF5   OGT   OPHN1   OTUD6A   P2RY10   P2RY4   PABPC1L2A   PABPC1L2B   PABPC1L2B-AS1   PABPC5   PABPC5-AS1   PAGE1   PAGE2   PAGE2B   PAGE3   PAGE4   PAGE5   PBDC1   PCDH11X   PCDH19   PDZD11   PFKFB1   PGAM4   PGK1   PHF8   PHKA1   PHKA1-AS1   PIN4   PJA1   PLP2   POF1B   POU3F4   PPP1R3F   PRICKLE3   RAB41   RIBC1   RLIM   RPA4   RPL36A   RPL36A-HNRNPH2   RPS4X   RPS6KA6   RRAGB   RTL3   RTL5   SATL1   SH3BGRL   SHROOM4   SLC16A2   SLC7A3   SMC1A   SNORA109   SNORA11   SNORA11D   SNORA11E   SNORA11G   SNORD3E   SNX12   SPANXN5   SPIN2A   SPIN2B   SPIN3   SPIN4   SRPX2   SSX2   SSX2B   SSX7   STARD8   SYP   SYP-AS1   SYTL4   TAF1   TAF7L   TAF9B   TBX22   TCEAL2   TCEAL6   TENT5D   TEX11   TGIF2LX   TIMM8A   TMEM35A   TNMD   TRMT2B   TRO   TSIX   TSPAN6   TSPYL2   TSR2   UBQLN2   UPRT   USP27X   USP27X-AS1   USP51   VSIG4   WDR45   WNK3   XAGE1A   XAGE1B   XAGE2   XAGE3   XAGE5   XIST   XKRX   YIPF6   ZC3H12B   ZC4H2   ZCCHC13   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.(?_49100536)_(102174742_?)del
NC_000023.10:g.(?_48957474)_(101429714_?)del
NC_000023.9:g.(?_48844418)_(101316370_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38X49,100,536 - 102,174,742CLINVAR
GRCh37X48,957,474 - 101,429,714CLINVAR
Build 36X48,844,418 - 101,316,370CLINVAR
Cytogenetic MapXXp11.23-q22.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9484970
Created: 2014-09-09
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.