Mutation Details for c.601delG

cDNA Name c.601delG 
Protein Name p.Val201CysfsX14 
Exon or Intron exon 6 
Legacy Exon or Intron exon 6a 
Legacy Name 733delG 
Other Details Name in accordance with the standard nomenclature guidelines(HGVS): c.601delG or p.Val201CysfsX13  
Contributors Claustres M, Guittard C, Altieri JP, Templin C, des Georges M.    2008-01-28
Institute Laboratoire de Genetique Moleculaire. IURC. CHU de Montpellier. France 
Submitted Phenotype Details This mutation was identified in trans of N1303K in a fetus presenting an hyperechogenic bowel at 23 weeks of pregnancy. It was inherited from the mother, who is from Algeria. 

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The Database was last updated at Apr 25, 2011