Mutation Details for c.476T>A
|
|
cDNA Name
|
c.476T>A
|
|
Protein Name
|
p.Leu159X
|
|
Exon or Intron
|
exon 4
|
|
Legacy Exon or Intron
|
exon 4
|
|
|
L159X
|
|
Other Details
|
This mutation was seen in a 2 year-old male CF patient whose other CF mutation is [delta]F508. He has had a positive sweat test and is pancreatic insufficient. We have seen this mutation and polymorphism only once in over 200 CF chromosomes screened.
|
|
Contributors
|
Andrew N,
Malone G,
Schwarz M
2000-09-14
|
|
Institute
|
Royal Manchester Children's Hospital
England
|
|
Submitted Phenotype Details
|
The CF patient (male, born in February 1998)is PI, has abnormal sweat chloride and possible chest symptoms. DelF508 is on the other allele.
(pers. corr. Schwarz)
|
|
Reference
|
Andrew et al. 2000
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
