Mutation Details for c.2052_2053insA

cDNA Name c.2052_2053insA 
Protein Name p.Gln685ThrfsX4 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name 2184insA 
Other Details In two German patients we identified an insertion of an A nucleotide into the stretch of seven A's from position 2178 to 2184 (2184insA). the insertion was found on two different alleles (haplotypes C and D) out of 72 non-[delta]F508 CF chromosomes. Four further German patients carry a previously reported complex deletion at the same position. 
Contributors Kalin N, Dork T, Tummler B   1992-01-02
Institute Medizinische Hochschule Hannover 
Phenotype Information CFTR2
Reference K√§lin et al. (NL#41) 

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The Database was last updated at Apr 25, 2011