Mutation Details for c.1707T>A
|
|
cDNA Name
|
c.1707T>A
|
|
Protein Name
|
p.Tyr569X
|
|
Exon or Intron
|
exon 13
|
|
Legacy Exon or Intron
|
exon 12
|
|
|
Y569X
|
|
Other Details
|
This mutation was identified by DGGE and direct sequencing in a patient of French origin, who is 9 yeras old, pancreatic insufficient and severely affected. The other chromosome carries the [delta]F508 mutation.
|
|
Contributors
|
Ferec C,
Quere I,
Audrezet MP,
Verlingue C,
Raguenes O,
Guillermit H,
Mercier B
1993-03-22
|
|
Institute
|
Centre de Transfusion Sanguine et de Biogenetique
Brest, France
|
|
Submitted Phenotype Details
|
The French CF patient (female, 18y) was diagnosed at 1year of age. She is PI, has positive sweat chloride and carries deltaF508 on the other allele. (pers. corr. Ferec)
|
|
Reference
|
Férec et al. (NL#54)
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
