Mutation Details for c.629T>C
|
cDNA Name
|
c.629T>C
|
Protein Name
|
p.Leu210Pro
|
Exon or Intron
|
exon 6
|
Legacy Exon or Intron
|
exon 6a
|
|
L210P
|
Other Details
|
|
Contributors
|
Girodon et al.
2003-05-30
|
Institute
|
Service de Biochimie-Genetique Hopital Henri-Mondor,France
|
Submitted Phenotype Details
|
The mutation was found in a 15y M, diagnosed at 14y, PS, no lung disease, positive sweat chloride, nasal polyposis. (pers. corr. Girodon)
|
Reference
|
Girodon et al. 2003
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|