Mutation Details for c.273+3A>C

cDNA Name c.273+3A>C 
Exon or Intron intron 3 
Legacy Exon or Intron intron 3 
Legacy Name 405+3A->C 
Other Details The 405+3A->C alteration was seen on 2 African-American CF chromosomes of 50 screened, one male and one female. ASO analysis revealed this alteration on one of 194 normal African-American chromosomes and one of 181 non-CF Caucasian chromosomes. It appears that this alteration is not a deleterious mutation, but a polymorphism. One patient carries [delta]F508 on the other allele; the other has an as-yet unidentified mutation. Both are pancreatic insufficient with moderate to severe lung disease. 
Contributors Hamosh A, Kiesewetter S, Macek MJr, Davis C, Cutting GR   1993-08-17
Institute Johns Hopkins Hospital Baltimore, MD, USA 
Submitted Phenotype Details  
Reference Hamosh et al. (NL#54) 

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The Database was last updated at Apr 25, 2011