Mutation Details for c.2658-1G>T
|
|
cDNA Name
|
c.2658-1G>T
|
|
Exon or Intron
|
intron 16
|
|
Legacy Exon or Intron
|
intron 14b
|
|
|
2790-1G->T
|
|
Other Details
|
This mutation has been found in one among 50 non-[delta]F508 CF chromosomes. Another subsitution G->C at the same position has been already described by Schwarz et al (NL #54). This patient presents a severe form of the disease. He carries the [delta]F508 mutation on the other chromosome
|
|
Contributors
|
Bienvenu T,
Cazeneuve C,
Kaplan JC,
Beldjord C
1994-10-02
|
|
Institute
|
Hopitaux de Paris
Paris, France
|
|
Submitted Phenotype Details
|
The male patient has severe CF and carries deltaF508 on the other allele. (pers.corr. Bienvenu)
|
|
Reference
|
Bienvenu et al. (NL#63)
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
