Mutation Details for c.2856G>C

cDNA Name c.2856G>C 
Protein Name p.Met952Ile 
Exon or Intron exon 17 
Legacy Exon or Intron exon 15 
Legacy Name M952I 
Other Details The above 2 mutations were discovered by DGGE and identified by direct sequencing. M952I was found in a CBAVD patient who also carries R117H but it was unclear if the 2 mutations were located on different chromosomes due to the lack of family members. Other CFTR gene regions also remain to be examined. The mutation status of M952I is thus tentative. 
Contributors Girodon E, Costes B, Cazeneuve C, Ghanem N, Goossens M   1995-11-10
Institute Hopital Henri Mondor, Creteil, France 
Submitted Phenotype Details This mutation was reported in two patient. 1. Patient (M) has CBAVD. 2. Patient (M) is >8y, has PI, severe lung disease and elevated sweat-chloride levels (95mM/l). The other mutation(s) in these patients are unknown.(Desgeorges et al. 1997) M952I was found in a 40y old male diagnosed at 32y with CBAVD. He carries R117H on the other allele.(pers. corr. Girodon)  
Reference Girodon et al (NL#67) 

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The Database was last updated at Apr 25, 2011