Mutation Details for c.743G>C

cDNA Name c.743G>C 
Protein Name p.Arg248Thr 
Exon or Intron exon 6 
Legacy Exon or Intron exon 6a 
Legacy Name R248T 
Other Details The mutation was detected by DGGE and identified by direct sequencing of a CBAVD patient with [delta]F508 on the other chromosome. The mutation was not observed in 100 other CFTR alleles from 50 unrelated individuals without CF history. The mutation may affect mRNA splicing. 
Contributors Scheffer H, Wu Y, Hofstra R, Looman M, de Jong D, Buys C   1997-08-22
Institute State University of Groningen, The Nethelands 
Submitted Phenotype Details  
Reference Scheffer et al. (NL#70) 

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The Database was last updated at Apr 25, 2011