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Variant : CV164443 (GRCh38/hg38 Xp11.22-q11.2(chrX:52809123-65305544)x3) Homo sapiens

Symbol: CV164443
Name: GRCh38/hg38 Xp11.22-q11.2(chrX:52809123-65305544)x3
Condition: See cases [RCV000142756]
Clinical Significance: pathogenic
Last Evaluated: 12/22/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ALAS2   AMER1   APEX2   ARHGEF9   ARHGEF9-IT1   ASB12   FAAH2   FAM104B   FAM120C   FAM156A   FAM156B   FGD1   FOXR2   GNL3L   GPR173   HSD17B10   HUWE1   IQSEC2   ITIH6   KANTR   KDM5C   KLF8   LINC01278   MAGED2   MAGEH1   MIR1468   MIR4536-1   MIR4536-2   MIR6857   MIR6894   MIR6895   MIR98   MIRLET7F2   MTMR8   MTRNR2L10   NBDY   NLRP2B   PAGE2   PAGE2B   PAGE3   PAGE5   PFKFB1   PHF8   RIBC1   RRAGB   SMC1A   SNORA109   SNORA11   SNORA11G   SPIN2A   SPIN2B   SPIN3   SPIN4   TRO   TSPYL2   TSR2   UBQLN2   USP51   WNK3   XAGE3   XAGE5   ZC3H12B   ZC4H2   ZXDA   ZXDB  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_52809123)_(65305544_?)dup
Human AssemblyChrPosition (strand)Source
GRCh38X52,809,123 - 65,305,544CLINVAR
GRCh37X52,838,147 - 64,525,424CLINVAR
Build 36X52,854,872 - 64,442,149CLINVAR
Cytogenetic MapXXp11.22-q11.2CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9490354
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.