Mutation Details for c.165-3C>T
|
|
cDNA Name
|
c.165-3C>T
|
|
Exon or Intron
|
intron 2
|
|
Legacy Exon or Intron
|
intron 2
|
|
|
297-3C->T
|
|
Other Details
|
This mutation was detected by DGGE using chemical clamps and identified by direct sequencing : 297-3C->T. This mutation has been found in one among 50 non-[delta]F508 CF chromosomes. The patient was sufficient pancreatic, presented a pulmonary form and died at the age 44 years. This patient has yet an unknown mutation on the other chromosome.
|
|
Contributors
|
Bienvenu T,
Fonknechten N,
Bousquet S,
Hubert D,
Kaplan JC,
Beldjord C
1993-05-18
|
|
Institute
|
Hopitaux de Paris
Paris, France
|
|
Submitted Phenotype Details
|
The mutation was identified in a female CF patient, 54 years old, diagnosed at 25, PS, with sweat chloride 126 mmol/l and severe lung disease (FEV1 12%). She carries W361R on the other allele.(pers. corr. Bienvenu)
|
|
Reference
|
Bienvenu et al. (NL#55)
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
