Mutation Details for c.244A>G

cDNA Name c.244A>G 
Protein Name p.Met82Val 
Exon or Intron exon 3 
Legacy Exon or Intron exon 3 
Legacy Name M82V 
Other Details The mutation was detected by DGGE analysis and characterized by direct sequencing. We have seen it only once, in over 400 control chromosomes from Italian population.  
Contributors Picci L., Cameran M., Marangon O., Marzenta D., Scarpa M.   2006-07-11
Institute Lab. Genetica Molecolare Dip Pediatria, Padova, Italy 
Submitted Phenotype Details It was found in the mother of a fetus having hyperechogenic bowel. There was no family history of CF. The fetus inherited the mutation but no other anomaly was detected after scanning of almost all the CFTR coding regions. 

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The Database was last updated at Apr 25, 2011