Mutation Details for c.476T>C
|
|
cDNA Name
|
c.476T>C
|
|
Protein Name
|
p.Leu159Ser
|
|
Exon or Intron
|
exon 4
|
|
Legacy Exon or Intron
|
exon 4
|
|
|
L159S
|
|
Other Details
|
This change has been detected by SSCP/HD analysis and direct sequencing. The mutation creates a TaqI restriction site
|
|
Contributors
|
T. Casals,J. Gimenez,MD. Ramos,C. Soler
2002-01-01
|
|
Institute
|
CGMM-IRO, Barcelona, Spain Hospital Xeral-Cies Vigo, Spain
|
|
Submitted Phenotype Details
|
The patient (male, 3 months) was diagnosed at 3 m., PS, sweat test 70 mMol/L. He carries F508del on the other allele.
|
|
Reference
|
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
