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

Variant : CV247894 (GRCh37/hg19 Xp11.22-q12(chrX:53085607-67176333)x2) Homo sapiens

Symbol: CV247894
Name: GRCh37/hg19 Xp11.22-q12(chrX:53085607-67176333)x2
Condition: See cases [RCV000239889]
Clinical Significance: pathogenic
Last Evaluated: 01/20/2016
Review Status: criteria provided, single submitter
Related Genes: ALAS2   AMER1   APEX2   AR   ARHGEF9   ASB12   EDA2R   FAAH2   FAM104B   FAM120C   FGD1   FOXR2   GNL3L   GPR173   HEPH   HSD17B10   HUWE1   IQSEC2   ITIH6   KDM5C   KLF8   LAS1L   MAGED2   MAGEH1   MIR223   MIR98   MIRLET7F2   MSN   MTMR8   MTRNR2L10   PAGE2   PAGE2B   PAGE3   PAGE5   PFKFB1   PHF8   RIBC1   RRAGB   SMC1A   SNORA11   SPIN2A   SPIN2B   SPIN3   SPIN4   TRO   TSPYL2   TSR2   UBQLN2   USP51   VSIG4   WNK3   ZC3H12B   ZC4H2   ZXDA   ZXDB  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh37X53,085,607 - 67,176,333CLINVAR
Cytogenetic MapXXp11.22-q12CLINVAR

Additional Information

External Database Links
RGD Object Information
RGD ID: 11541380
Created: 2016-10-11
Species: Homo sapiens
Last Modified: 2020-06-23
Status: ACTIVE


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