Mutation Details for c.3908delA

cDNA Name c.3908delA 
Protein Name p.Asn1303ThrfsX25 
Exon or Intron exon 24 
Legacy Exon or Intron exon 21 
Legacy Name 4040delA 
Other Details This frameshift mutation was detected by DGGE and subsequent sequencing in an Austrian CF patient. 
Contributors Greil I, Wagner K, Rosenkranz W   1993-06-28
Institute University of Graz Austria 
Submitted Phenotype Details The patient (female) was diagnosed at 1 year old. She is PI, has positive sweat chloride and carries deltaF508 on the other allele. (pers.corr. Wagner) 
Reference Greil et al. (NL#56) 

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The Database was last updated at Apr 25, 2011