Mutation Details for c.2619+18_2619+23del

cDNA Name c.2619+18_2619+23del 
Exon or Intron intron 15 
Legacy Exon or Intron intron 14a 
Legacy Name IVS14a+17del5 
Other Details This polymorphism was found by DGGE and identified by direct sequencing in a Lebanese family. It was detected in a CF patient's father with [delta]F508 on the other chromosome. It does not modify a restriction site. 
Contributors Claustres M, Guittard C, Desgorges M, Carles S   1999-02-08
Institute Institut de Biologie Montpellier, France 
Submitted Phenotype Details IVS14a+17del5 was found in normal chromosom of CF patient's father. (Lebanese family)(pers. corr. Claustres)  
Reference Claustres et al. 1999 

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The Database was last updated at Apr 25, 2011