Mutation Details for c.3410T>C

cDNA Name c.3410T>C 
Protein Name p.Met1137Thr 
Exon or Intron exon 21 
Legacy Exon or Intron exon 18 
Legacy Name M1137T 
Other Details The mutation was detected by DGGE analysis and characterized by direct sequencing. We have seen it only twice, in over 1300 control chromosomes from Italian population.  
Contributors Picci L., Cameran M., Marangon O., Marzenta D., Scarpa M.   2006-07-11
Institute Lab. Genetica Molecolare Dip Pediatria, Padova, Italy 
Submitted Phenotype Details The mutation was found in the mother of a CF child she carriers R851X in the same allele. No clinical data available for the CF patient. 
Reference  

To check if there are any papers published about this mutation/variant on PubMed, please click here.




Comments or questions? Please email to cftr.admin
The Database was last updated at Apr 25, 2011