Mutation Details for c.1584+1G>A

cDNA Name c.1584+1G>A 
Exon or Intron intron 11 
Legacy Exon or Intron intron 10 
Legacy Name 1716+1G->A 
Other Details The mutation is found in a Bulgarian CF patient, who has pancreatic sufficiency and mild pulmonary involvement. The other mutation of the patient is [delta]F508. (NL# 69) 
Contributors Jordanova A, Savov A, Angelicheva D, Kremensky I   1996-06-20
Institute Laboratory of Molecular Pathology, Sofia, Bulgaria. 
Submitted Phenotype Details The patient (8y, female) was diagnosed at 6 months. She had meconium ileus, is PI and sweat chloride 137-146 mmol/l. She carries delF508 on the other allele. (pers. corr. Jordanova) The patient (male, 7 y), diagnosed at 4 years of age, is PI, has sweat chloride 130 mmol/l and carries N1303K on the other allele. (pers. corr. Tzetis)  
Reference Jordanova et al. (NL#69) 

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The Database was last updated at Apr 25, 2011