Mutation Details for c.3386T>G
|
|
cDNA Name
|
c.3386T>G
|
|
Protein Name
|
p.Val1129Gly
|
|
Exon or Intron
|
exon 21
|
|
Legacy Exon or Intron
|
exon 18
|
|
|
V1129G
|
|
Other Details
|
Name in accordance with the standard nomenclature guidelines (HGVS):
c.3386T>G or p.Val1129Gly
|
|
Contributors
|
Claustres M, Guittard C, Altieri JP, Templin C, des Georges M.
2008-01-28
|
|
Institute
|
Laboratoire de Genetique Moleculaire. IURC. CHU de Montpellier. France
|
|
Submitted Phenotype Details
|
This mutation was identified by sequencing in a child suspected of CF(diarrhea, bronchitis and positive or borderline sweat test). No other mutation has been found after complete scanning(Sequencing and search for large rearrangements)
|
|
Reference
|
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
