Mutation Details for c.1482_1483delTT

cDNA Name c.1482_1483delTT 
Protein Name p.Ser495LeufsX8 
Exon or Intron exon 11 
Legacy Exon or Intron exon 10 
Legacy Name 1612delTT 
Other Details The identification of one new CFTR mutation detected by DGGE screening and automatic sequencing : this mutation is a 2 bp deletion from 1612 (1612 del TT) in exon 10. The mutation was observed in a French CF patient. On the other allele is the 3906 ins G recently reported and is suffering from a severe CF. 
Contributors Feldmann D, Magnier C, Chauve C, Aymard P, Hermelin B, Fauroux B   1994-01-14
Institute Hopitaux de Paris Paris, France 
Submitted Phenotype Details  
Reference Feldman et al. (NL#61) 

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The Database was last updated at Apr 25, 2011