Mutation Details for c.805_806delAT
|
|
cDNA Name
|
c.805_806delAT
|
|
Protein Name
|
p.Ile269ProfsX4
|
|
Exon or Intron
|
exon 7
|
|
Legacy Exon or Intron
|
exon 6b
|
|
|
936delTA
|
|
Other Details
|
This mutation was detected by SSCP analysis, followed by direct sequencing. We have found a homozygous CF patient with 936delTA mutation (2/48 non-[delta]F508 CF chromosomes).
|
|
Contributors
|
Chillon M,
Gimenez J,
Casals T,
Nunes V,
Estivill X
1993-02-05
|
|
Institute
|
Institut de Recerca Oncologica
Barcelona, Spain
|
|
Submitted Phenotype Details
|
The mutation was identified in 2 patient:
- one is homozygous, male, 7 years old, diagnosed at 1 month of age, sweat chloride 120 mmol/l and chronic lung colonization;
- one carries deltaF508 on the other allele, female, 11y, diagnosed at 19 months of age, PI, FEV1 60% with chronic lung colonization and sweat chloride 110 mmol/l.(Chillon et al. 1994)
|
|
Reference
|
Chillón et al. 1994
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
