Mutation Details for c.1177delG
|
|
cDNA Name
|
c.1177delG
|
|
Protein Name
|
p.Val393X
|
|
Exon or Intron
|
exon 9
|
|
Legacy Exon or Intron
|
exon 8
|
|
|
1309delG
|
|
Other Details
|
The mutation was detected by DGGE and identified by direct DNA sequencing. The mutation was found in a CF patient whose other chromosome carries [delta]F508. We have seen this mutation only once in 150 non-[delta]F508 chromosomes screened. The DGGE primers were generously supplied by Prof. Michel Goossens on behalf of the European Community Concerted Action for the Co-ordination of Cystic Fibrosis Research and Therapy.
|
|
Contributors
|
Malone G,
Haworth A,
Schwarz M
1996-07-05
|
|
Institute
|
Royal Manchester Children's Hospital,
England.
|
|
Submitted Phenotype Details
|
The patient carries delF508 on the other allele.
(pers.corr.Schwarz)
|
|
Reference
|
Malone et al. (NL#69)
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
