Mutation Details for c.146T>C
|
Note: this mutation was submitted but not yet reviewed by our curator.
|
|
cDNA Name
|
c.146T>C
|
|
Protein Name
|
p.Leu49Pro
|
|
Exon or Intron
|
|
|
Other Details
|
This mutation was detected by exon and intron-exon border sequencing. No abnormality was detected by the MLPA method. The mutant sequence was not found in 220 other chromosomes from Argentina CF patients and was found together with a nonsense mutation, (c.3484C>T, p.Arg1162*).
|
|
Contributors and Institutes
|
| Xavier Pepermans | - | Center for Human Genetics, Université Catholique de Louvain (UCL), Brussels, Belgium | | Marta Wagener | - | Hospital de Niños Dr. O. Alassia, Santa Fe, Argentina | | Sergio Chialina, Soledad Mellado and Claudia Fornes | - | STEM Laboratory, Rosario, Argentina | | Teresinha Leal | - | LTAP/IREC, UCL, Brussels, Belgium |
|
|
Submitted Phenotype Details
|
The patient is a 1-year old Argentina boy with no family history of CF. The patient was diagnosed as CF in the first month of life due to positive neonatal screening. He presented early pulmonary symptoms. Sweat testing: chloride 76 and 66 mMol/L.
|
|
Reference
|
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
