Mutation Details for c.325_327delTATinsG
|
|
cDNA Name
|
c.325_327delTATinsG
|
|
Protein Name
|
p.Tyr109GlyfsX4
|
|
Exon or Intron
|
exon 4
|
|
Legacy Exon or Intron
|
exon 4
|
|
|
457TAT->G
|
|
Other Details
|
This variation creates a Sau restriction site. This variation was found on one Yugoslavian chromosome.
|
|
Contributors
|
Ferec C,
Quere I,
Verlingue C,
Mercier B,
Audrezet MP,
Guillermit H
1992-06-12
|
|
Institute
|
Centre de Transfusion Sanguine et de Biogenetique
Brest, France
|
|
Phenotype Information
|
CFTR2
|
|
Reference
|
Audrézet et al. (NL #46)
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
