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Variant : CV383841 (GRCh37/hg19 Xq28(chrX:152228560-154930047)x2) Homo sapiens

Symbol: CV383841
Name: GRCh37/hg19 Xq28(chrX:152228560-154930047)x2
Condition: See cases [RCV000447331]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ABCD1   ARHGAP4   ATP2B3   ATP6AP1   AVPR2   BCAP31   BGN   BRCC3   CCNQ   CLIC2   CMC4   CTAG1A   CTAG1B   CTAG2   DKC1   DNASE1L1   DUSP9   EMD   F8   F8A1   F8A2   F8A3   FAM3A   FAM50A   FLNA   FUNDC2   G6PD   GAB3   GDI1   H2AB1   H2AB2   H2AB3   HAUS7   HCFC1   IDH3G   IKBKG   IRAK1   L1CAM   LAGE3   MAGEA1   MECP2   MPP1   MTCP1   NAA10   OPN1LW   OPN1MW   OPN1MW2   PDZD4   PLXNA3   PLXNB3   PNCK   PNMA3   PNMA6A   PNMA6E   RAB39B   RENBP   RPL10   SLC10A3   SLC6A8   SMIM9   SRPK3   SSR4   TAZ   TEX28   TKTL1   TMEM187   TMLHE   TREX2   UBL4A   VBP1   ZFP92   ZNF275  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37X152,228,560 - 154,930,047CLINVAR
Cytogenetic MapXXq28CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12852048
Created: 2017-04-11
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.