Mutation Details for c.1829T>C

cDNA Name c.1829T>C 
Protein Name p.Leu610Ser 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name L610S 
Other Details The nucleotide change T->C, at position 1961 in exon 13 leads to L610S. This mutation was identified on one French CF chromosome. The patient was diagnosed 3 months ago during a systematic neonate screening. There is no clinical data available now. 
Contributors Ferec C, Quere I, Audrezet MP, Verlingue C, Guillermit H, Mercier B, Raguenes O   1993-01-19
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details The French CF patient (male,10y) was diagnosed at birth. He carries 1078delT on the other allele. (pers.corr. Ferec) 
Reference FĂ©rec et al. (NL#52) 

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The Database was last updated at Apr 25, 2011