Mutation Details for c.(?_3964)_(4242_?)del

Note: this mutation was submitted but not yet reviewed by our curator.

cDNA Name c.(?_3964)_(4242_?)del 
Exon or Intron exon 25 - exon 26 
Legacy Exon or Intron exon 22 - exon 23 
Legacy Name Del exon 22-23 
Other Details The proband harbors R1162X mutation 
Contributors Hantash FM, Redman JB. et al. Abs. Ann. Mtg ASHG. Toronto 2004. # 2660.   2005-02-10
Institute Quest Diagnostics Nichols Institute. San Juan Capistrano, CA. 
Submitted Phenotype Details Classic CF Hispanic patient. 
Reference  

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The Database was last updated at Apr 25, 2011