Mutation Details for c.1923_1931del9insA

cDNA Name c.1923_1931del9insA 
Protein Name p.Ser641ArgfsX5 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name 2055del9->A 
Other Details 2055del9->A was detected by SSCP. The deletion removes restriction site for Alu I. The mutation was found in two Mexican (Mestee) CF patients. Patient #1: [delta]F508/2055del9->A; sweat Cl-, 117 mEq/L; pancreatic insufficiency (PI); moderate-severe lung disease. Patient #2: 2055del9->A/unknown; sweat Cl-, 112 mEq/L; pancreatic insufficiency (PI); moderate lung disease. 
Contributors Orozco L, Villarreal T, Lezana J L, Zielenski J, Markiewicz D, Tsui L-C   1995-01-30
Institute Instituto Nacional de Pediatria, Mexico and The Hospital for Sick Children, Toronto, Canada 
Submitted Phenotype Details No additional clinical data available. See original note. (pers. corr. Zielenski) 
Reference Orozco et al. (NL#65) 

To check if there are any papers published about this mutation/variant on PubMed, please click here.

Comments or questions? Please email to cftr.admin
The Database was last updated at Apr 25, 2011