Mutation Details for c.4426C>T
|
|
cDNA Name
|
c.4426C>T
|
|
Protein Name
|
p.Gln1476X
|
|
Exon or Intron
|
exon 27
|
|
Legacy Exon or Intron
|
exon 24
|
|
|
Q1476X
|
|
Other Details
|
This stop mutation was found by DGGE and identified by DNA sequencing in a CBAVD patient originating from Tunisia, who carries [delta]F508 on the other chromosome.
This variation doesn't modifiy any restriction site.
|
|
Contributors
|
Claustres M,
Des Georges M,
Guittard C
1999-05-10
|
|
Institute
|
Institut de Biologie Montpellier
|
|
Submitted Phenotype Details
|
The mutation was found in a 39 years old PS male patient with CBAVD, with no lung involvment, carrying deltaF508 on the other allele. (pers. corr. Claustres)
|
|
Reference
|
Claustres et al. 1999
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
