Mutation Details for c.1684G>C

cDNA Name c.1684G>C 
Protein Name p.Val562Leu 
Exon or Intron exon 13 
Legacy Exon or Intron exon 12 
Legacy Name V562L 
Other Details V562L was detected by DGGE analysis, followed by direct fluorescent sequencing. It was detected in one patient from 220 in Northern Ireland. The other CF allele is presently unknown. 
Contributors Hughes D, Hill A, Graham   1995-01-04
Institute Belfast City Hospital, Northern Ireland 
Submitted Phenotype Details (Hughes et all 1996) The patient (male, 9 yrs) has PS and mild CF 
Reference Hughes et al. (NL#65) 

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The Database was last updated at Apr 25, 2011