Mutation Details for c.3497T>G
|
cDNA Name
|
c.3497T>G
|
Protein Name
|
p.Phe1166Cys
|
Exon or Intron
|
exon 22
|
Legacy Exon or Intron
|
exon 19
|
|
F1166C
|
Other Details
|
This possible mutation was found by DGGE and identified by DNA sequencing in a CF patient from Tunisia.
|
Contributors
|
Fattoum S.,Messaoud T.,Belhadj Frej S.,Ghrab E.
2003-08-23
|
Institute
|
Laboratoire de Biochimie et Biologie moleculaire Hôpital d'Enfants Tunis
|
Submitted Phenotype Details
|
The patient is a newborn girl of 45 day-old who presented with meconium ileus. She carries this mutation on one chromosome. The other CF mutation was unknown. The F1166C was also detected in one of her parents.
|
Reference
|
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|