Mutation Details for c.463G>C

cDNA Name c.463G>C 
Protein Name p.Ala155Pro 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name A155P 
Other Details The mutation was detected by heteroduplex analysis of a 6 month-old Polish CF patient. She had high sweat chloride (130 meq/l), pancreatic insufficiency, mild lung disease, and hypochloremia diarrhea. Her presumed genotype is 3171insA/A155P. 
Contributors Zielenski J, Aznarez I, Tsui L-C, Bal J, Mazurczak T   1997-11-12
Institute The Hospital for Sick Children, Toronto, Canada Institute for Mother and Child, Warsaw, Poland 
Submitted Phenotype Details The mutation was found in a 6 month-old female Polish CF patient. She had high sweat chloride (130 meq/l), is PI, has mild lung disease, and hypochloremia and diarrhea. She carries 3171insA on the other allele. (pers. corr. Zielenski) 
Reference Zielenski et al. (NL#70) 

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The Database was last updated at Apr 25, 2011