Mutation Details for c.2488A>T
|
|
cDNA Name
|
c.2488A>T
|
|
Protein Name
|
p.Lys830X
|
|
Exon or Intron
|
exon 14
|
|
Legacy Exon or Intron
|
exon 13
|
|
|
K830X
|
|
Other Details
|
A nucleotide change, A->T, was observed in exon 13 at position 2620 leading to K830X. The patient is 3 years old, and pancreatic insufficient. The other chromosome carries a [delta]F508 mutation. This mutation was found once among 28 Belgian CF chromosomes.
|
|
Contributors
|
Lissens W,
Bonduelle M,
Liebaers I,
Ferec C,
Quere I,
Mercier B,
Audrezet MP
1992-05-12
|
|
Institute
|
Centre de Transfusion Sanguine et de Biogenetique
Brest, France
|
|
Submitted Phenotype Details
|
The mutation was identified in a Belgian CF patient, PI, carrying deltaF508 on the other allele. (pers.corr. Ferec)
|
|
Reference
|
Mercier et al. 1993a
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
