Mutation Details for c.2556T>G

cDNA Name c.2556T>G 
Protein Name p.Tyr852X 
Exon or Intron exon 15 
Legacy Exon or Intron exon 14a 
Legacy Name Y852X 
Other Details  
Contributors Bulman M, Brownsell E, Schwarz MJ.   2008-07-24
Institute Regional Molecular Genetics Laboratory St Mary’s Hospital, Manchester, England 
Submitted Phenotype Details The mutation was found in homozygous form in a Pakistani boy who is the issue of a consanguineous marriage. He also has an affected sister. We do not have any clinical information.No further sequence changes were found after sequencing the entire coding region of the gene and performing MLPA for larger deletions and duplications. 

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The Database was last updated at Apr 25, 2011