Mutation Details for c.1727G>C
|
|
cDNA Name
|
c.1727G>C
|
|
Protein Name
|
p.Gly576Ala
|
|
Exon or Intron
|
exon 13
|
|
Legacy Exon or Intron
|
exon 12
|
|
|
G576A
|
|
Other Details
|
The mutation was detected by DGGE analysis and identified by direct DNA sequencing.
The mutation was seen in a 45 year-old male with absence of the vas deferens, who also has [delta]F508. We have seen it only once, in over 100 non-[delta]F508 chromosomes screened, in this man referred by the Oxford Medical Genetics Laboratories (UK). The DGGE primers were generously supplied by Prof. Michel Goossens on behalf of the European Community Concerned Action for the Co-ordination of Cystic Fibrosis Research and Therapy.
|
|
Contributors
|
Sarginson J,
Malone G,
Haworth A,
Schwarz M
1996-08-13
|
|
Institute
|
Royal Manchester Children's Hospital,
England
|
|
Phenotype Information
|
CFTR2
|
|
Reference
|
Sarginson et al. (NL#69)
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
