Mutation Details for c.2053_2054insC
|
|
cDNA Name
|
c.2053_2054insC
|
|
Protein Name
|
p.Gln685ProfsX4
|
|
Exon or Intron
|
exon 14
|
|
Legacy Exon or Intron
|
exon 13
|
|
|
2185insC
|
|
Other Details
|
>We would like to report a new mutation in the CF gene: 2185insC. We found
>this mutation in a CF patient heterozygote for deltaF508. DeltaF508 is from
>paternal origin, 2185insC is from maternal origin. The patient was
>CF-diagnosed in infancy but is now 32 years old . The mutation was
>detected by sequencing.
This mutation was found in a CF patient heterozygote for [delta]F508. [delta]F508 is of paternal origin, 2185insC is maternal. The patient was CF-diagnosed in infancy but is now 32 years old. The mutation was detected by sequencing.
|
|
Contributors
|
Mornet E,
Taillandier A,
Simon-Bouy B
1999-08-17
|
|
Institute
|
Centre d'Etudes de Biologie Prenatale SESEP
Universite de Versailles,
Versailles, France
|
|
Submitted Phenotype Details
|
|
|
Reference
|
Mornet et al. 1999
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
