Mutation Details for c.509G>A

cDNA Name c.509G>A 
Protein Name p.Arg170His 
Exon or Intron exon 5 
Legacy Exon or Intron exon 5 
Legacy Name R170H 
Other Details This mutation was seen in a 48 year-old male being investigated for infertility whose other CF mutation is [delta]F508. We have seen this mutation only once in over 200 CF chromosomes screened.(Original Note 27March2001) Reported by Jennifer King (University of Iowa. 22/03/2002): It was also found in a 12 year old male patient who was seen for genetic evaluation following discovery of CBAVD (during a hydrocele repair operation). It turned out that he has a [delta]F508 mutation and a R170H mutation. His sweat test was normal. 
Contributors Brownsell E, Malone G, Patel V, Schwarz M   2001-03-27
Institute Royal Manchester Children's Hospital England 
Submitted Phenotype Details 2 patients, both with CBAVD, normal sweat chlorides, one of them born in 1950. Both have DelF508 on the other allele. (pers. corr. Schwarz) 
Reference Brownsell et al. 2001 

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The Database was last updated at Apr 25, 2011