Mutation Details for c.3584A>C
|
|
cDNA Name
|
c.3584A>C
|
|
Protein Name
|
p.Asn1195Thr
|
|
Exon or Intron
|
exon 22
|
|
Legacy Exon or Intron
|
exon 19
|
|
|
N1195T
|
|
Other Details
|
|
|
Contributors
|
Savov A.
2002-01-01
|
|
Institute
|
Laboratory of Molecular Pathology, Sofia, Bulgaria
|
|
Submitted Phenotype Details
|
The mutation was identified in 23 years old male patient, diagnosed with CF at 12 years of age. He is PS, has moderate lung disease and sweat chloride 95-97 mmol/l. He was diagnosed with bronchiectasis as well. He carries G1244V and S912L on the other allele. (pers corr. Savov)
|
|
Reference
|
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
