Mutation Details for c.1040G>C
|
|
cDNA Name
|
c.1040G>C
|
|
Protein Name
|
p.Arg347Pro
|
|
Exon or Intron
|
exon 8
|
|
Legacy Exon or Intron
|
exon 7
|
|
|
R347P
|
|
Other Details
|
This mutation destroys a Hha I restriciton site and creates an NcoI site and occurred in a family diagnosed as PS. The mutation have been identified and analyzed using the SSCP technique.
|
|
Contributors
|
Dean M,
White MB,
Gerrard B,
Stewart C
1990-02-08
|
|
Institute
|
NCI Frederick, USA
|
|
Phenotype Information
|
CFTR2
|
|
Reference
|
Dean et al. (NL #6)
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
