Mutation Details for c.3068_3072delTAGTG

cDNA Name c.3068_3072delTAGTG 
Protein Name p.Ile1023SerfsX22 
Exon or Intron exon 19 
Legacy Exon or Intron exon 17a 
Legacy Name 3200_3204delTAGTG 
Other Details Names in accordance with standard nomenclature guidelines(HGVS): c.3068_3072delTAGTG or p.Ile1023SerfsX21  
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 de novo mutation was identified by sequencing in a newborn presenting positive IRT at birth and heterozygous for the most common mutation (p.Phe508del). The sweat test was positive (92/95 mmol/l). It occurs on the paternal chromosome. 

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The Database was last updated at Apr 25, 2011