Mutation Details for c.868C>T
|
|
cDNA Name
|
c.868C>T
|
|
Protein Name
|
p.Gln290X
|
|
Exon or Intron
|
exon 7
|
|
Legacy Exon or Intron
|
exon 6b
|
|
|
Q290X
|
|
Other Details
|
The above mutation was found by DGGE and direct sequencing in Caucasian patients.
|
|
Contributors
|
Férec C,
Quere I,
Verlingue C,
Raguenes O,
Audrézet M-P,
Mercier B
1995-02-07
|
|
Institute
|
Centre de Transfusion sanguine et de Biogénétique,
Brest, France
|
|
Submitted Phenotype Details
|
The mutation was identified in a French CF patient (male, 18y) carrying deltaF508 on the other allele. (pers. corr. Ferec)
|
|
Reference
|
Férec et al. (NL#65)
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
