Mutation Details for c.3161A>T

cDNA Name c.3161A>T 
Protein Name p.His1054Leu 
Exon or Intron exon 20 
Legacy Exon or Intron exon 17b 
Legacy Name H1054 L 
Other Details This mutation was detected by exon 17b DGGE and sequencing in one healthy Portuguese  
Contributors Pacheco P., Loureiro P., Silva C.   2006-05-12
Institute Instituto Nacional de Saúde, Centro de Genética Humana, Lisboa, Portugal 
Submitted Phenotype Details This mutation was found in a healthy adult Portuguese female, detected in a cascade carrier screening.  

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