Mutation Details for c.1684G>A

cDNA Name c.1684G>A 
Protein Name p.Val562Ile 
Exon or Intron exon 13 
Legacy Exon or Intron exon 12 
Legacy Name V562I 
Other Details V562I was detected by DGGE and direct sequencing. The patient was born in Morocco and is homozygous for the mutation and reported to have severe CF with pancreatic insufficiency. The G to A change at 1816 was previously reported to the database as a polymorphism (1816G/A) by Fanen et al. in 1992 
Contributors Feldmann D, Balloul H, Magnier C, Chauve C, Plouvier E, Aymard P   1995-10-04
Institute Hopital D'Enfants Armand-Trousseau 
Submitted Phenotype Details  
Reference Feldmann et al (NL#67) 

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The Database was last updated at Apr 25, 2011