Mutation Details for c.2855T>C

cDNA Name c.2855T>C 
Protein Name p.Met952Thr 
Exon or Intron exon 17 
Legacy Exon or Intron exon 15 
Legacy Name M952T 
Other Details The mutation was detected in one Polish CF patient by multiplex heteroduplex analysis on MDE gel matrix and direct sequencing. The mutation on the other chromosome is unknown. 
Contributors Zielenski J, Aznarez I, Tsui L-C, Bal J, Mazurczak T   1999-07-26
Institute The Hosiptal for Sick Children Toronto, Canada Institute for Mother and Child Warsaw, Poland 
Submitted Phenotype Details The mutation was found in a CBAVD patient. (pers. corr. Zielenski) 
Reference Zielenski et al. 1999 

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The Database was last updated at Apr 25, 2011