Mutation Details for c.530T>C

cDNA Name c.530T>C 
Protein Name p.Ile177Thr 
Exon or Intron exon 5 
Legacy Exon or Intron exon 5 
Legacy Name I177T 
Other Details The above mutation was detected by DGGE with chemical clamps and direct sequencing. It was not found in 100 other non-[delta]F508 CF chromosomes and 100 non-CF chromosomes tested. This mutation can be easily detected by a new RsaI restriction site. The patient was diagnosed by meconium ileus. The other CFTR mutation in this patient is unknown. 
Contributors Bienvenu T, Bousquet S, Herbulot C, Beldjord C, Kaplan J C   1996-03-21
Institute Laboratoire de Biochimie Génétique, Groupe Hôspitalier Cochin, France 
Submitted Phenotype Details One CF patient, (male, 12y) diagnosed at birth with meconium ileus, is PI. No other mutation identified.(pers.corr. Bienvenu) 
Reference Bienvenu et al. (NL#68) 

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The Database was last updated at Apr 25, 2011