Mutation Details for c.3007G>T
|
|
cDNA Name
|
c.3007G>T
|
|
Protein Name
|
p.Gly1003X
|
|
Exon or Intron
|
exon 19
|
|
Legacy Exon or Intron
|
exon 17a
|
|
|
G1003X
|
|
Other Details
|
|
|
Contributors
|
Férec C
2000-09-22
|
|
Institute
|
Laboratoire de Biogénétique,
University of Brest
Brest, France
|
|
Submitted Phenotype Details
|
The mutation was identified in a French CF patient (male) carrying deltaF508 on the other allele. (pers. corr. Ferec)
|
|
Reference
|
Férec 2000
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
