Mutation Details for c.1475C>T
|
|
cDNA Name
|
c.1475C>T
|
|
Protein Name
|
p.Ser492Phe
|
|
Exon or Intron
|
exon 11
|
|
Legacy Exon or Intron
|
exon 10
|
|
|
S492F
|
|
Other Details
|
The nucleotide change destroys a DdeI site in the PCR product obtained with 10i3 and 10i5. We have found it on one CF chromosomes among 87 tested through DGGE and DNA sequencing. The patient is 20 years old and PS, he carries the [delta]F508 on the other chromosome.
|
|
Contributors
|
Ferec C,
Guillermit H,
Quere I,
Verlingue C
1991-07-01
|
|
Institute
|
Centre de Transfusion Sanguine et de Biogenetique
Brest, France
|
|
Phenotype Information
|
CFTR2
|
|
Reference
|
Férec et al. 1992
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
