Mutation Details for c.57G>A
|
|
cDNA Name
|
c.57G>A
|
|
Protein Name
|
p.Trp19X
|
|
Exon or Intron
|
exon 2
|
|
Legacy Exon or Intron
|
exon 2
|
|
|
W19X
|
|
Other Details
|
This substitution destroys an Ava II site. The patient has [delta]F508 on the other CF chromosome and his parent's origin is Tunisia. This mutation was found once out of 1460 CF chromosomes screened.
|
|
Contributors
|
Chevalier-Porst F,
Bozon D
1998-07-13
|
|
Institute
|
Biochimie, Bat D,
Hopital Debrousse, Lyon, France
|
|
Submitted Phenotype Details
|
The mutation was found in a 13-year old female patient carrying deltaF508 on the other allele. (pers. corr. Bozon)
|
|
Reference
|
Chevalier-Porst & Bozon (NL#70)
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
