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Variant : CV247858 (GRCh37/hg19 Xp11.22-11.21(chrX:53220822-58066465)x3) Homo sapiens

Symbol: CV247858
Name: GRCh37/hg19 Xp11.22-11.21(chrX:53220822-58066465)x3
Condition: See cases [RCV000240407]
Clinical Significance: pathogenic
Last Evaluated: 01/20/2016
Review Status: criteria provided, single submitter
Related Genes: ALAS2   APEX2   FAAH2   FAM104B   FAM120C   FGD1   FOXR2   GNL3L   HSD17B10   HUWE1   IQSEC2   ITIH6   KDM5C   KLF8   MAGED2   MAGEH1   MIR98   MIRLET7F2   MTRNR2L10   PAGE2   PAGE2B   PAGE3   PAGE5   PFKFB1   PHF8   RIBC1   RRAGB   SMC1A   SNORA11   SPIN2A   SPIN2B   SPIN3   TRO   TSR2   UBQLN2   USP51   WNK3   ZXDA   ZXDB  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh37X53,220,822 - 58,066,465CLINVAR
Cytogenetic MapXXp11.22-11.21CLINVAR

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 11541809
Created: 2016-10-11
Species: Homo sapiens
Last Modified: 2019-11-05
Status: ACTIVE


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