Mutation Details for c.3874-19_3874-17delCTT

cDNA Name c.3874-19_3874-17delCTT 
Exon or Intron intron 23 
Legacy Exon or Intron intron 20 
Legacy Name 4006-19del3 
Other Details This mutation was found during direct sequencing of exon 21 and is a deletion of 3 baseparts involving the C nucleotide, 4006-19 and two T residues either downstream, epstream or flanking. Only one chromosome has been detected with this mutation in 93 non-[delta]F508 chromosomes (45[delta]F508 chromosomes). The patient involved is of Portugese origin, 27 years old, with a mild CF and pancreatic sufficient.  
Contributors Malik N, Hofmann S, Morris M, Buhler E   1991-06-28
Institute Basler Kinderspital Basel Basler-Basel, Switzerland 
Submitted Phenotype Details  
Reference Naseem et al. (NL#36) 

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The Database was last updated at Apr 25, 2011