Mutation Details for c.913T>G
|
|
cDNA Name
|
c.913T>G
|
|
Protein Name
|
p.Phe305Val
|
|
Exon or Intron
|
exon 8
|
|
Legacy Exon or Intron
|
exon 7
|
|
|
F305V
|
|
Other Details
|
This mutation was identified on one Greek CF chromosome.
|
|
Contributors
|
M. Poulou, M. Tzetis and E. Kanavakis
2006-04-12
|
|
Institute
|
Department of Medical Genetics, Athens University, St Sophia's Children's Hospital, Athens Greece
|
|
Submitted Phenotype Details
|
The individual (male, 35y) was found during our screening program of relatives of CF children. His wife (CF relative) was found to be a carrier.
|
|
Reference
|
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
