Mutation Details for c.3212A>C
|
cDNA Name
|
c.3212A>C
|
Protein Name
|
p.Gln1071Pro
|
Exon or Intron
|
exon 20
|
Legacy Exon or Intron
|
exon 17b
|
|
Q1071P
|
Other Details
|
This substitution was detected by DGGE and identified by direct sequencing. The mutation was found in an adult French patient who bears [delta]F508 on the other chromosome.
|
Contributors
|
Ghanem N,
Costes B,
Martin J,
Goossens M
1992-08-27
|
Institute
|
Centre Hospitalier Universitaire Henri Mondor
Paris, France
|
Submitted Phenotype Details
|
The Q1071P mutation was found in a patient also carrying deltaF508 on the other allele. (pers. corr. Girodon)
|
Reference
|
Ghanem et al. 1994
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|