Mutation Details for c.217delC
|
cDNA Name
|
c.217delC
|
Protein Name
|
p.Leu73PhefsX18
|
Exon or Intron
|
exon 3
|
Legacy Exon or Intron
|
exon 3
|
|
347delC
|
Other Details
|
347delC was found in one French CF patient, with the other mutation being N1303K.
|
Contributors
|
Chevalier-Porst F,
Bozon D
1995-06-30
|
Institute
|
Hopital Debrousse
|
Submitted Phenotype Details
|
347delC was found in a patient also carrying N1303K, born 1990, female, diagnosed at 6 months. (pers. corr. Bozon)
|
Reference
|
Chevalier-Porst & Bozon (NL#66)
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|