Mutation Details for c.1550A>G

cDNA Name c.1550A>G 
Protein Name p.Tyr517Cys 
Exon or Intron exon 11 
Legacy Exon or Intron exon 10 
Legacy Name Y517C 
Other Details The mutation was detected by SSCP analysis and identified by direct DNA sequencing and confirmed by restriction site generated PCR: a modified primer creates a RsaI site, destroyed by the mutation.  
Contributors Arduino C, Brusco A, Ferrone M, Piana M R, Carbonara A   1997-08-06
Institute Servizio di Genetica Medica, Torino, Italy 
Submitted Phenotype Details The patient(female, 8) was diagnosed at birth, with meconium ileus, is PI, sweat chloride 93 mmol/l. 2694delT on the other allele. (pers.corr.Arduino) 
Reference Arduino et al. (NL#70) 

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The Database was last updated at Apr 25, 2011