Mutation Details for c.530T>C
|
|
cDNA Name
|
c.530T>C
|
|
Protein Name
|
p.Ile177Thr
|
|
Exon or Intron
|
exon 5
|
|
Legacy Exon or Intron
|
exon 5
|
|
|
I177T
|
|
Other Details
|
The above mutation was detected by DGGE with chemical clamps and direct sequencing. It was not found in 100 other non-[delta]F508 CF chromosomes and 100 non-CF chromosomes tested. This mutation can be easily detected by a new RsaI restriction site. The patient was diagnosed by meconium ileus. The other CFTR mutation in this patient is unknown.
|
|
Contributors
|
Bienvenu T,
Bousquet S,
Herbulot C,
Beldjord C,
Kaplan J C
1996-03-21
|
|
Institute
|
Laboratoire de Biochimie Génétique,
Groupe Hôspitalier Cochin,
France
|
|
Submitted Phenotype Details
|
One CF patient, (male, 12y) diagnosed at birth with meconium ileus, is PI. No other mutation identified.(pers.corr. Bienvenu)
|
|
Reference
|
Bienvenu et al. (NL#68)
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
