Mutation Details for c.165-3C>T

cDNA Name c.165-3C>T 
Exon or Intron intron 2 
Legacy Exon or Intron intron 2 
Legacy Name 297-3C->T 
Other Details This mutation was detected by DGGE using chemical clamps and identified by direct sequencing : 297-3C->T. This mutation has been found in one among 50 non-[delta]F508 CF chromosomes. The patient was sufficient pancreatic, presented a pulmonary form and died at the age 44 years. This patient has yet an unknown mutation on the other chromosome. 
Contributors Bienvenu T, Fonknechten N, Bousquet S, Hubert D, Kaplan JC, Beldjord C   1993-05-18
Institute Hopitaux de Paris Paris, France 
Submitted Phenotype Details The mutation was identified in a female CF patient, 54 years old, diagnosed at 25, PS, with sweat chloride 126 mmol/l and severe lung disease (FEV1 12%). She carries W361R on the other allele.(pers. corr. Bienvenu) 
Reference Bienvenu et al. (NL#55) 

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The Database was last updated at Apr 25, 2011