Mutation Details for c.2947_2948delTT

cDNA Name c.2947_2948delTT 
Protein Name p.Leu983GlyfsX2 
Exon or Intron exon 18 
Legacy Exon or Intron exon 16 
Legacy Name 3079delTT 
Other Details The mutation was detected by SSCP/heteroduplex analysis and identified by direct DNA sequencing. The mutation was seen in a baby girl whose other CF mutation is [delta]F508. We have seen it only once in 100 samples tested. 
Contributors Haworth A, Malone G, Schwartz M   1997-01-17
Institute Royal Manchester Children's Hospital, England 
Submitted Phenotype Details The patient (female) carries DelF508 on the other allele. (pers. corr. Schwarz)  
Reference Haworth et al. (NL#69) 

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The Database was last updated at Apr 25, 2011