Mutation Details for c.3445delT

cDNA Name c.3445delT 
Protein Name p.Ser1149ProfsX3 
Exon or Intron exon 21 
Legacy Exon or Intron exon 18 
Legacy Name 3577delT 
Other Details This mutation was detected by DGGE and identified by direct sequencing in a CBAVD patient. It was not found in 200 other non-[delta]F508 CF chromosomes and 200 non CF chromosomes tested. The other mutation was unknown. 
Contributors Bienvenu T, Bousquet S, Stephann J, Vidaud D, Beldjord C   1997-12-29
Institute Groupe Hospitalier Cochin, Paris, France 
Submitted Phenotype Details The mutation was found in a CBAVD patient. No other mutation was identified. (pers. corr. Bienvenu) 
Reference Bienvenu et al. (NL#70) 

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The Database was last updated at Apr 25, 2011