Mutation Details for c.613C>T

cDNA Name c.613C>T 
Protein Name p.Pro205Ser 
Exon or Intron exon 6 
Legacy Exon or Intron exon 6a 
Legacy Name P205S 
Other Details This mutation was detected by SSCP analysism followed by direct sequencing. Mutation P205S was found in 3/270 unrelated Spanish CF non-[delta]F508 chromosomes. P205S is associated with haplotype 16/44/13. 
Contributors Chillon M, Nunes V, Gimenez J, Casals T, Estivill X   1992-12-03
Institute Institut de Recerca Oncologica Barcelona, Spain 
Phenotype Information CFTR2
Reference Chill√≥n et al. 1993b 

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Literature referencing this mutation. Sort by: 
Note: This reference list is not up-to-date at this stage, but may be searched for some rare variants without pubmed hits.





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The Database was last updated at Apr 25, 2011