Mutation Details for c.3002_3003delTG

cDNA Name c.3002_3003delTG 
Protein Name p.Val1001AspfsX45 
Exon or Intron exon 19 
Legacy Exon or Intron exon 17a 
Legacy Name 3132delTG 
Other Details This mutation was found by DGGE anaylsis, followed by sequencing in two patients. It was compunded with [delta]F508 and with an unknown mutation, respectively, in a total of 225 CF chromosomes from a North East Italian CF cohort. 
Contributors Marigo C, Bombieri C, Pignatti PF, Bonizatto A, Nicolis E, Cabrini G   1994-01-21
Institute Istituto di Scienze Biologiche Verona, Italy 
Submitted Phenotype Details The mutation was identified in a CF patient (female, 25 years old) diagnosed at 1 month of age. She is PI, has FEV1 81% and sweat chloride 129 mmol/l. She has DIOS. She carries deltaF508 on the other allele. (pers. corr. Bombieri) 
Reference Marigo et al. (NL#61) 

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The Database was last updated at Apr 25, 2011