Mutation Details for c.2658-1G>T

cDNA Name c.2658-1G>T 
Exon or Intron intron 16 
Legacy Exon or Intron intron 14b 
Legacy Name 2790-1G->T 
Other Details This mutation has been found in one among 50 non-[delta]F508 CF chromosomes. Another subsitution G->C at the same position has been already described by Schwarz et al (NL #54). This patient presents a severe form of the disease. He carries the [delta]F508 mutation on the other chromosome 
Contributors Bienvenu T, Cazeneuve C, Kaplan JC, Beldjord C   1994-10-02
Institute Hopitaux de Paris Paris, France 
Submitted Phenotype Details The male patient has severe CF and carries deltaF508 on the other allele. (pers.corr. Bienvenu) 
Reference Bienvenu et al. (NL#63) 

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The Database was last updated at Apr 25, 2011