Mutation Details for c.328delG

cDNA Name c.328delG 
Protein Name p.Asp110ThrfsX14 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name 460delG 
Other Details A new frameshift mutation was found in exon 4 of the CFTR gene. The deletion of a G at position 460 was found after DGGE screening and subsequent sequencing of the PCR product. The second mutation of the patient is not yet detected and we have found this deletion once in 120 non[delta]F508 CF chromosomes so far screened by DGGE. 
Contributors Wagner K, Rosenkranz W   1994-10-10
Institute Institut fur Medizinische Biologie & Humangenetik Graz, Austria 
Submitted Phenotype Details The patient (female) was diagnosed at 32 years of age. She is PS, has positive sweat chloride tests and carries 2381C->T on the other allele. (pers. corr. Wagner) 
Reference Wagner & Rosenkranz (NL#64) 

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The Database was last updated at Apr 25, 2011