Mutation Details for c.1046C>T
|
|
cDNA Name
|
c.1046C>T
|
|
Protein Name
|
p.Ala349Val
|
|
Exon or Intron
|
exon 8
|
|
Legacy Exon or Intron
|
exon 7
|
|
|
A349V
|
|
Other Details
|
A nucleotide, C->T at position 1178, was detected by DGGE and direct sequencign leading to A 349V in exon 7.
|
|
Contributors
|
Ferec C,
Quere I,
Verlingue C,
Audrezet MP,
Mercier B,
Guillermit H
1992-06-22
|
|
Institute
|
Centre de Transfusion Sanguine et de Biogenetique
Brest, France
|
|
Submitted Phenotype Details
|
The mutation was identified in a CF carrier (Scotet et al. 2001, pers. corr. Ferec)
|
|
Reference
|
Audrézet et al. 1993a
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
