Mutation Details for c.2968_2969insA

cDNA Name c.2968_2969insA 
Protein Name p.Thr990AsnfsX4 
Exon or Intron exon 18 
Legacy Exon or Intron exon 16 
Legacy Name 3100insA 
Other Details This mutation was detected in a severely affected PI German CF patient with [delta]F508 on the other allele. The insertion co-inherited with the XV-2c/KM.19 haplotype C and with seven GATT repeats. It creates a Mse I site. 
Contributors Dork T, Bosshammer J, Tummler B   1992-11-23
Institute Medizinische Hochschule Hannover Hannova, Germany 
Submitted Phenotype Details The patient (male, 8) was diagnosed at 2y3m with CF; he is PI, has FEV1 70% and Pseudomonas Aeruginosa infections. He carries DelF508 on the other allele. (pers.corr. Doerk) 
Reference Dörk et al. 1994b 

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The Database was last updated at Apr 25, 2011