Mutation Details for c.3000_3014delTGTGATTGGAGCTAT

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

cDNA Name c.3000_3014delTGTGATTGGAGCTAT 
Protein Name p.Val1001_Ile1005del 
Exon or Intron  
Other Details Mutation found bz NGS CFTR Devyser kit, confirmed with sanger sequencing 
Contributors and Institutes
unknown - unknown
Submitted Phenotype Details Deletion found in ukrainian patient, with F508del on the second allele. 

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The Database was last updated at Apr 25, 2011