Mutation Details for c.3569T>A

cDNA Name c.3569T>A 
Protein Name p.Val1190Asp 
Exon or Intron exon 22 
Legacy Exon or Intron exon 19 
Legacy Name V1190D 
Other Details A new novel missense mutation in exon 19 of the CFTR gene was detected by SSCP and heteroduplex analysis followed by direct sequencing. Mutation is a single base substitution T -> A at nucleotide position 3701, which results in the replacement of a valine residue by a proline residue at codon 1190. 
Contributors Glavac D, Ravnik-Glavac M, Dean M   1994-12-07
Institute Kemijski Institut Ljubljana, Slovenia 
Submitted Phenotype Details  
Reference Glavac et al. (NL#64) 

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The Database was last updated at Apr 25, 2011