Mutation Details for c.2738A>G

cDNA Name c.2738A>G 
Protein Name p.Tyr913Cys 
Exon or Intron exon 17 
Legacy Exon or Intron exon 15 
Legacy Name Y913C 
Other Details This mutation is associated with haplotype A (Caucasian) and it is neither detected in 45 other non-[delta]F508 chromosomes nor in 12 normal or 33 [delta]F508 chromosomes. 
Contributors Goossens M, Vidaud M   1990-04-04
Institute Unite de Recherches en Genetique Moleculaire et en Hematologie Creteil, France 
Submitted Phenotype Details Y913C was found in a male diagnosed at 3m, he was PI, had severe pulmonary symptoms and positive sweat chloride. He died at 20y. He carried deltaF508 on the other allele. (pers. corr. Girodon)  
Reference Vidaud et al. 1990 

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Literature referencing this mutation. Sort by: 
Note: This reference list is not up-to-date at this stage, but may be searched for some rare variants without pubmed hits.

  • Gasparini P, Bonizzato A, Dognini M, Pignatti PF   Restriction site generating-polymerase chain reaction (RG-PCR) for the probeless detection of hidden genetic variation: application to the study of some common cystic fibrosis mutations.   1992 002;6(1):1-7

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The Database was last updated at Apr 25, 2011