Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV155731 (GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1) Homo sapiens

Symbol: CV155731
Name: GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1
Condition: See cases [RCV000135306]
Clinical Significance: pathogenic
Last Evaluated: 11/30/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABCB7   ALAS2   AMER1   APEX2   APOOL   AR   ARHGEF9   ARHGEF9-IT1   ARR3   ASB12   ATP7A   ATRX   AWAT1   AWAT2   BRWD3   CDX4   CHIC1   CHM   CITED1   COX7B   CPXCR1   CXCR3   CXorf49   CXorf49B   CXorf65   CYLC1   CYSLTR1   DACH2   DGAT2L6   DLG3   DLG3-AS1   DMRTC1   DMRTC1B   EDA   EDA2R   EFNB1   ERCC6L   FAAH2   FAM104B   FAM120C   FAM155B   FAM226A   FAM226B   FAM236A   FAM236B   FAM236C   FAM236D   FGD1   FGF16   FLJ44635   FOXO4   FOXR2   FTX   GCNA   GDPD2   GJB1   GNL3L   GPR174   HDAC8   HDX   HEPH   HMGN5   IGBP1   IL2RG   ITGB1BP2   ITIH6   ITM2A   JPX   KIF4A   KLF8   KLHL4   LAS1L   LINC00269   LINC00891   LINC01278   LPAR4   MAGED2   MAGEE1   MAGEE2   MAGEH1   MAGT1   MED12   MIR1321   MIR1468   MIR223   MIR325   MIR325HG   MIR361   MIR374A   MIR374B   MIR374C   MIR384   MIR421   MIR4328   MIR4536-1   MIR4536-2   MIR545   MIR548I4   MIR676   MSN   MTMR8   MTRNR2L10   NAP1L2   NBDY   NEXMIF   NHSL2   NLGN3   NLRP2B   NONO   OGT   OPHN1   OTUD6A   P2RY10   P2RY4   PABPC1L2A   PABPC1L2B   PABPC1L2B-AS1   PABPC5   PABPC5-AS1   PAGE2   PAGE2B   PAGE3   PAGE5   PBDC1   PCDH11X   PDZD11   PFKFB1   PGAM4   PGK1   PHF8   PHKA1   PHKA1-AS1   PIN4   PJA1   POF1B   POU3F4   RAB41   RLIM   RPS4X   RPS6KA6   RRAGB   RTL3   RTL5   SATL1   SH3BGRL   SLC16A2   SLC7A3   SNORA109   SNORA11   SNORA11G   SNORD3E   SNX12   SPIN2A   SPIN2B   SPIN3   SPIN4   STARD8   TAF1   TAF9B   TBX22   TENT5D   TEX11   TGIF2LX   TRO   TSIX   TSR2   UBQLN2   UPRT   USP51   VSIG4   WNK3   XIST   YIPF6   ZC3H12B   ZC4H2   ZCCHC13   ZDHHC15   ZMYM3   ZNF711   ZXDA   ZXDB  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_53985575)_(92203108_?)del
NC_000023.10:g.(?_54012008)_(91458107_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38X53,985,575 - 92,203,108CLINVAR
GRCh37X54,012,008 - 91,458,107CLINVAR
Build 36X54,028,733 - 91,344,763CLINVAR
Cytogenetic MapXXp11.22-q21.31CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9482879
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-09-06
Status: ACTIVE



NHLBI Logo

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