Mutation Details for c.1972_1973insA
|
|
cDNA Name
|
c.1972_1973insA
|
|
Protein Name
|
p.Arg658LysfsX7
|
|
Exon or Intron
|
exon 14
|
|
Legacy Exon or Intron
|
exon 13
|
|
|
2104insA+2109-2118del10
|
|
Other Details
|
This complex mutation was identified at the homozygous or hemizygous state (the parents were not available) in a young patient from Brazil, and having a classical severe form of CF. The mutation leads to a structure modification in a region of the R domain which is conserved among species: RNSIL>KK (R958, N959).
|
|
Contributors
|
Girodon E,
Cazeneuve C,
Sternberg D,
Costes B,
Goossens M
1999-11-23
|
|
Institute
|
Service de Biochimie-Genetique
Hopital Henri-Mondor,
France
|
|
Submitted Phenotype Details
|
2104insA+2109-2118del10 was found in a homozygous 5y M, diagnosed at 21m, PI, no pulmonary symptoms, positive sweat chloride.(pers.corr. Girodon)
|
|
Reference
|
Girodon et al. 1999
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
