Mutation Details for c.-812T>G
|
|
cDNA Name
|
c.-812T>G
|
|
Exon or Intron
|
promoter
|
|
Legacy Exon or Intron
|
promoter and 5' UTR
|
|
|
-741T->G
|
|
Other Details
|
This mutation was detected by DGGE using chemical clamps and identified by direct sequencing: T->G at -741 from the cap site. This mutation is located in a potential Ap-1 binding site. This mutation can easily be detected by restriction enzyme digestion, as it destorys an Hph I site. This mutation has been found in one among 50 non-[delta]F508 CF chromosomes. This patient has a [delta]F508 mutation on the other chromosome. The patient is insufficient pancreatic, presents a moderate from and cirrhosis.
|
|
Contributors
|
Bienvenu T,
Cazaneuve C,
Kaplan JC,
Beldjor C
1993-10-08
|
|
Institute
|
Hopitaux de Paris
Paris, France
|
|
Submitted Phenotype Details
|
The mutation was identified in a 22 male CF patient with cirrhosis, diagnosed at 3 months of age, PI, with positive sweat chloride, moderate pulmonary disease with Pseudomonas Aeruginosa colonization. He carries deltaF508 on the other allele. (pers. corr. Bienvenu)
|
|
Reference
|
Bienvenu et al. (NL#59)
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
