Mutation Details for c.1792_1798delAAAACTA

cDNA Name c.1792_1798delAAAACTA 
Protein Name p.Lys598GlyfsX11 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name 1924del7 
Other Details 1924del7 was detected by SSCP. The deletion removes the only restriction site for MaeI in the PCR fragment amplified from 13i-5 and 13i-3A primers. The mutation was found in one Mexican (Mestee) CF patient .Patient : [delta]F508/1924del7; sweat Cl-, 102 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 The mutation was found in one CF patient diagnosed at age 4, who was PI, has swezt chloride 102 mmol/l and moderate pulmonary disease with PA colonization. The patient carries deltaF508 on the other allele.(Orozco et al. 1997) 
Reference Orozco et al. (NL#65) 

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The Database was last updated at Apr 25, 2011