Mutation Details for c.2502T>G

cDNA Name c.2502T>G 
Protein Name p.Phe834Leu 
Exon or Intron exon 15 
Other Details The patient is compound heterozygote, the second mutation is A to C at 18126 (p.R560S); the mutation was detected after sequencing of the whole CFTR gene and was detected only once in our cohort of CF-patients 
Contributors and Institutes
Wagner Klaus - Medical University Graz, Institute of Human Genetics
Submitted Phenotype Details The female patient was born 1988, parents are from India and were not available for analysis. Sweat test was borderline, PS 

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