Mutation Details for c.2719A>G

cDNA Name c.2719A>G 
Protein Name p.Ile907Val 
Exon or Intron exon 17 
Legacy Exon or Intron exon 15 
Legacy Name 2851A/G 
Other Details This sequence variation was found by DGGE and identified by DNA fluorescent sequencing in a CBAVD patient from Southern France, who carries [delta]F508 on the same chromosome and the 5T allele in intron 8 in trans. This variation creates a restriction site for MaeIII. 
Contributors Claustres M, Des Georges M, Guittard C   2000-02-14
Institute Institut de Biologie Monpelier France 
Submitted Phenotype Details Patient (M) is 33y, has PS, no lung disease and CBAVD. DeltaF508 was found on the same allele as 2851A/G, 5T was found on the other allele. (Pers. corr. Claustres) 
Reference Claustres et al. 2000 

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The Database was last updated at Apr 25, 2011