Mutation Details for c.2245C>T
|
|
cDNA Name
|
c.2245C>T
|
|
Exon or Intron
|
exon 14
|
|
Legacy Exon or Intron
|
exon 13
|
|
|
2377C/T
|
|
Other Details
|
This polymorphism was found by DGGE and identified by direct sequencing in a CBAVD from Southern France. It does not modified a RS.(Original note Claustres et al. 1996-10-28). NL#69
The polymorphism was also reported by Bombieri et al. on 1997-08-06 found by DGGE analysis followed by sequencing, and confirmed with a Restriction Site Generating PCR assay. It was found once out of 102 chromosomes of COPD patients. It was also absent in 46 chromosomes of patients affected by Diffuse Bronchiectasis and in 120 control chromosomes. NL#70
|
|
Contributors
|
Claustres M,
Guittard C,
Desgorges M,
Carles S
1996-10-28
|
|
Institute
|
Institut de Biologie Montpelier
|
|
Submitted Phenotype Details
|
This individual (F) is 54y is NOT a CF patient, but a COPD (emphysema) patient. FEV1=16.6%.
No other mutation was found. (pers.corr. Bombieri)
|
|
Reference
|
Claustres et al. (NL#69)
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
