Mutation Details for c.2374C>T
|
|
cDNA Name
|
c.2374C>T
|
|
Protein Name
|
p.Arg792X
|
|
Exon or Intron
|
exon 14
|
|
Legacy Exon or Intron
|
exon 13
|
|
|
R792X
|
|
Other Details
|
|
|
Contributors
|
Claustres M. et al. 1993
1993-01-01
|
|
Institute
|
Laboratoire de Biochimie Genetique Montpellier, France
|
|
Submitted Phenotype Details
|
The mutation was found in a 15 years old female patient with the R792X,L967S/621+2T>G genotype. She is PI, had moderate lung disease at 5 years of age, and sweat chloride 78/82 mmol/l. (pers. corr. Claustres)
|
|
Reference
|
Claustres et al. 1993
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
