Mutation Details for c.2977G>T

cDNA Name c.2977G>T 
Protein Name p.Asp993Tyr 
Exon or Intron exon 18 
Legacy Exon or Intron exon 16 
Legacy Name D993Y 
Other Details The above mutation was found by DGGE and then direct sequencing of DNA from a patient with severe phenotype from Southern France. 
Contributors Claustres M, Desgorges M, Carles S   1995-08-04
Institute Institut de Biologie Montpellier 
Submitted Phenotype Details Patient (M) is 16y, has PI, severe lung disease and positve sweat-chloride test. DeltaF508 was found on the other allele. (Pers. corr. Claustres) 
Reference Claustres et al (NL#67) 

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