Mutation Details for c.1053_1054delTC

cDNA Name c.1053_1054delTC 
Protein Name p.Arg352AlafsX11 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name 1185delTC 
Other Details This deletion was found by DGGE followed by sequencing of both the strands. This mutation was found in a patient originating from Puglia region of Southern Italy. The genotype of the patient is G1349D/1185delTC. 
Contributors Polizzi A., Santostasi T., Manca A., Logrillo V.P. and Rigillo N.   2004-06-16
Institute Dipartimento di Biomedicina dellEtˆ Evolutiva-Laboratorio Fibrosi Cistica-Policlinico-Universitˆ degli Studi di Bari- Bari-ITALY  
Submitted Phenotype Details The patient is 12yr. old female diagnosed at 4mo. (sweat cloride 70mEq/L) with very mild pulmonary disease (current FEV1:92% of predicted), PS and very mild liver disease. (per. corr. Polizzi) 

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The Database was last updated at Apr 25, 2011