Mutation Details for c.410T>A

cDNA Name c.410T>A 
Protein Name p.Leu137His 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name L137H 
Other Details The above mutation was detected by SSCP/heteroduplex analysis and characterised by direct sequencing. It was not previously observed in over 100 non-[delta]F508 CF chromosomes. L137H was observed in an adult male presenting only with male infertility due to CBAVD. This sample was referred from the Leeds DNA lab by Lucy Ellis. His other mutation is [delta]F508. 
Contributors Wallace AJ   1996-06-21
Institute Regional Molecular Genetics Lab, St Mary's Hospital, Manchester, UK. 
Submitted Phenotype Details  
Reference Wallace (NL#69) 

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The Database was last updated at Apr 25, 2011