Mutation Details for c.2758G>A

cDNA Name c.2758G>A 
Protein Name p.Val920Met 
Exon or Intron exon 17 
Legacy Exon or Intron exon 15 
Legacy Name V920M 
Other Details This sequence variation has been found in one among50 non-[delta]F508 CF chromosomes. The mutation destroys an Maell site. The patient has the [delta]F508 defect on the other chromosomes and was diagnosed by meconium ileus. 
Contributors Bienvenu T, Cazeneuve C, Kaplan JC, Beldjord C   1994-10-02
Institute Hopitaux de Paris Paris, France 
Submitted Phenotype Details One patient, female, diagnosed at birth with meconium ileus, died at 3 months, was PI, had sweat chloride 110 mmol/l. On the other allele she carried delF508. (pers.corr. Bienvenu) 
Reference Bienvenu et al. (NL#63) 

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The Database was last updated at Apr 25, 2011