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Variant : CV158769 (GRCh38/hg38 Xp21.3-11.4(chrX:28234352-37850186)x3) Homo sapiens

Symbol: CV158769
Name: GRCh38/hg38 Xp21.3-11.4(chrX:28234352-37850186)x3
Condition: See cases [RCV000138078]
Clinical Significance: likely pathogenic|uncertain significance
Last Evaluated: 01/10/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: CFAP47   CXorf21   CYBB   DMD   DYNLT3   FAM47A   FAM47B   FAM47C   FTHL17   FTHL18   GK   IL1RAPL1   LANCL3   MAGEB1   MAGEB16   MAGEB2   MAGEB3   MAGEB4   MIR3915   MIR4666B   MIR548F5   MIR6134   NR0B1   PRRG1   TAB3   TAB3-AS1   TMEM47   XK  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_28234352)_(37850186_?)dup
NC_000023.10:g.(?_28252469)_(37709439_?)dup
NC_000023.9:g.(?_28162390)_(37594383_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X28,234,352 - 37,850,186CLINVAR
GRCh37X28,252,469 - 37,709,439CLINVAR
Build 36X28,162,390 - 37,594,383CLINVAR
Cytogenetic MapXXp21.3-11.4CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9485627
Created: 2014-09-09
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.