Mutation Details for c.523A>G

cDNA Name c.523A>G 
Protein Name p.Ile175Val 
Exon or Intron exon 5 
Legacy Exon or Intron exon 5 
Legacy Name I175V 
Other Details This mutation was detected by DGGE in exon 5 in a CF patient from Southern France. 
Contributors Claustres M, Laussel M, Razakatzara G   1993-05-27
Institute Laboratoire de Biochimie Genetique Montpellier, France 
Submitted Phenotype Details (Romey et all 1994 and pers. corr. Romey) Patient (F) is 9y, has PI, severe lung disease and elevated sweat-chloride. This individual is homozygous for I175V. Another homozygous patient (female)was diagnosed at birth, with meconium ileus. 
Reference Romey et al. 1994a 

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Literature referencing this mutation. Sort by: 
Note: This reference list is not up-to-date at this stage, but may be searched for some rare variants without pubmed hits.

  • Romey MC, Desgeorges M, Malzac P, Sarles J, Demaille J, Claustres M   Homozygosity for a novel missense mutation (I175V) in exon 5 of the CFTR gene in a family of Armenian descent.   1994 004;3(4):661-2




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The Database was last updated at Apr 25, 2011