Mutation Details for c.3835_3836delTT

cDNA Name c.3835_3836delTT 
Protein Name p.Leu1279AlafsX22 
Exon or Intron exon 23 
Other Details The patient is compound heterozygote, the second mutation is F508del; the mutation was detected after sequencing of the whole CFTR gene and was detected only once in our cohort of CF-patients 
Contributors and Institutes
Wagner Klaus - Medical University Graz, Institute of Human Genetics
Submitted Phenotype Details The female patient was born 2007, parents are from Austria and father showed the same allele. Sweat test was repeatedly positive  

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The Database was last updated at Apr 25, 2011