Mutation Details for c.1610_1611delAC

cDNA Name c.1610_1611delAC 
Protein Name p.Asp537GlufsX30 
Exon or Intron exon 12 
Legacy Exon or Intron exon 11 
Legacy Name 1742delAC 
Other Details This mutation was detected in an 8 year-old Japanese CF patient by direct DNA sequencing. The patient has meconium ileus, pancreatic insufficiency, elevated sweat chloride concentration (153 meq/l) and pulmonary disease. He carries the A allele of 1525-18G/A polymorphism. 
Contributors Abo W, Seki K, Yamamoto Y   1998-03-05
Institute Aomori Central Hospital, Aomori, and JCR Pharmaceuticals Co, Kobe, Japan 
Submitted Phenotype Details The patient (male, 14 years and 8 months) was diagnosed at 8 years and 6 months. He had meconium ileus, is PI, has sweat chloride 153 mmol/l and FEV1 56%. He carries 1525-18G/A on the other allele. (pers. corr. Abo) 
Reference Abo et al. (NL#70) 

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