Mutation Details for c.614C>G
|
cDNA Name
|
c.614C>G
|
Protein Name
|
p.Pro205Arg
|
Exon or Intron
|
exon 6
|
Legacy Exon or Intron
|
exon 6a
|
|
P205R
|
Other Details
|
|
Contributors
|
Ferec C.
2002-01-01
|
Institute
|
Centre de Transfusion Sanguine et de Biogenetique Brest, France
|
Submitted Phenotype Details
|
The French CF patient is PI and apparently homozygous for P205R. (pers. corr. Ferec)
|
Reference
|
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|