Mutation Details for c.1679+16T>C
|
|
cDNA Name
|
c.1679+16T>C
|
|
Exon or Intron
|
intron 12
|
|
Legacy Exon or Intron
|
intron 11
|
|
|
1811+16T->C
|
|
Other Details
|
The mutation was found in one CFTR gene, by exon 11 DGGE and sequencing. This mutation was detected in a African-Portuguese CF patient, that is a compound heterozygous with the mutation 3601-17T->C.
|
|
Contributors
|
Pacheco P, Loureiro P, Lopes B.
2006-05-12
|
|
Institute
|
Instituto Nacional de Saúde, Centro de Genética Humana, Lisboa, Portugal
|
|
Submitted Phenotype Details
|
This African-Portuguese female patient was diagnosed with mild CF at 9 years of age having: nasal polyps, sinusitis, frequent cough with sputum, 2 border-line sweat tests (55- 60 mEq/l) and abdominal pain. The geographic origin of the patient is Guiné Bissau and Cabo-Verde.
|
|
Reference
|
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
