Mutation Details for c.1657C>G
|
|
cDNA Name
|
c.1657C>G
|
|
Protein Name
|
p.Arg553Gly
|
|
Exon or Intron
|
exon 12
|
|
Legacy Exon or Intron
|
exon 11
|
|
|
R553G
|
|
Other Details
|
This mutation was found identified by DGGE and direct sequencing. This nucleotide change was observe in a French CF chromosome.
|
|
Contributors
|
Ferec C,
Quere I,
Verlingue C,
Audrezet MP,
Raguenes O,
Guillermit H,
Mercier B
1993-06-07
|
|
Institute
|
Centre de Transfusion Sanguine et de Biogenetique
Brest, France
|
|
Submitted Phenotype Details
|
The mutation was identified in a French CF patient (male, 9y) diagnosed at birth. He is PS, has no pulmonary symptoms and sweat chloride was 60 mmol/l. He carries G551D on the other allele. (pers.corr. Ferec)
The mutation was identified in a carrier for CF. (Scotet et al., 2001)
|
|
Reference
|
Férec et al. (NL#59)
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
