Mutation Details for c.1745C>T

cDNA Name c.1745C>T 
Protein Name p.Thr582Ile 
Exon or Intron exon 13 
Legacy Exon or Intron exon 12 
Legacy Name T582I 
Other Details  
Contributors Claustres M, Desgorges M, Romey M-C   1995-12-22
Institute Institut de Biologie Montpellier 
Submitted Phenotype Details Patient (M) is 71y, has PS, bronchiectasis elevated sweat-chloride (90mM/l) and CBAVD. 5T was found on the other allele. (Pers. corr. Claustres) 
Reference Claustres et al (NL#67) 

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The Database was last updated at Apr 25, 2011