Mutation Details for c.1561A>C

cDNA Name c.1561A>C 
Protein Name p.Ile521Leu 
Exon or Intron exon 11 
Legacy Exon or Intron exon 10 
Legacy Name 1693A->C 
Other Details This possible polymorphism was detected by DGGE and identified by DNA fluorescent sequencing in a future father from Southern France. The foetus presented an hyperechogenic bowel and he didn't carry this variation. 
Contributors Claustres M, des Georges M, Guittard C   2001-05-09
Institute IURC Montpellier 
Submitted Phenotype Details No additional clinical data available. (pers. corr. Claustres) 
Reference Claustres et al. 2001 

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The Database was last updated at Apr 25, 2011