Mutation Details for c.3773_3774insT
|
|
cDNA Name
|
c.3773_3774insT
|
|
Protein Name
|
p.Leu1258PhefsX7
|
|
Exon or Intron
|
exon 23
|
|
Legacy Exon or Intron
|
exon 20
|
|
|
3905insT
|
|
Other Details
|
This mutation was found during direct sequencing and comprises an insertion of a T residue among the string of 6 Ts spanning nucleotides 3900 to 3905. The patient is of Swiss origin, and has the [delta]F508 mutation on his other chromosome, is 26 years old, and had light CF until 18 then rapid progression with a severe asthma component.
|
|
Contributors
|
Malik N,
Hofmann S,
Bosch-Al Jadooa N,
Rutishauser M,
Buhler E
1991-07-30
|
|
Institute
|
Basler Kinderspital Basel
Basel, Switzerland
|
|
Phenotype Information
|
CFTR2
|
|
Reference
|
Malik et al. (NL#37)
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
