Mutation Details for c.3717G>C
|
|
cDNA Name
|
c.3717G>C
|
|
Protein Name
|
p.Arg1239Ser
|
|
Exon or Intron
|
exon 22
|
|
Legacy Exon or Intron
|
exon 19
|
|
|
R1239S
|
|
Other Details
|
|
|
Contributors
|
Bulman M, Brownsell E, Schwarz MJ.
2008-07-24
|
|
Institute
|
Regional Molecular Genetics Laboratory
St Mary’s Hospital, Manchester, England
|
|
Submitted Phenotype Details
|
Two month year old child with raised IRT on CF newborn screening programme and tested heterozygous for F508del at this stage. She was subsequently shown to have a positive sweat test (sweat chloride 86mMol/L).No other sequence changes were found after sequencing the entire coding region of the gene.
|
|
Reference
|
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
