Mutation Details for c.1008_1019dup12
|
|
cDNA Name
|
c.1008_1019dup12
|
|
Protein Name
|
p.Phe337_Ile340dup
|
|
Exon or Intron
|
exon 8
|
|
Legacy Exon or Intron
|
exon 7
|
|
|
1151ins12
|
|
Other Details
|
This mutation was identified in one CF patient carrying the deltaF508 mutation on the other chromosome. No other mutation was detected after a wide CFTR gene mutation screening (27 exons and intronic boundaries) by DHPLC methodology.
|
|
Contributors
|
Bieth E., Gaston V., Michau P
2003-09-23
|
|
Institute
|
Laboratoire de GŽnŽtique MŽdicale; H™pital Purpan; CHU de Toulouse (France)
|
|
Submitted Phenotype Details
|
The patient (a female of hispanic origin) was referred for chronic cough, failure to thrive and positive sweat test (Cl- = 80 mEq/l). At age 6 years she expressed a severe phenotype with pancreatic insufficiency, and recurrent pulmonary infections (H. influenzae and S. aureus.)
|
|
Reference
|
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
