Mutation Details for c.1392+60_1392+61insA
|
cDNA Name
|
c.1392+60_1392+61insA
|
Exon or Intron
|
exon 10
|
Legacy Exon or Intron
|
exon 9
|
|
1524+60 insA
|
Other Details
|
The mutation was detected by DGGE analysis and characterized by direct sequencing.
We have seen it only once, in over 1500 control chromosomes from Italian population.
|
Contributors
|
Picci L., Cameran M., Marangon O., Marzenta D., Scarpa M.
2006-07-18
|
Institute
|
Lab. Genetica Molecolare Dip Pediatria, Padova, Italy
|
Submitted Phenotype Details
|
The change was found in the asymptomatic husband (carrying 1716 a/g polymorphisms on the other allele), from North-East Italy, of a CF carrier.
|
Reference
|
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|