Mutation Details for c.1546A>G
|
|
cDNA Name
|
c.1546A>G
|
|
Protein Name
|
p.Arg516Gly
|
|
Exon or Intron
|
exon 11
|
|
Legacy Exon or Intron
|
exon 10
|
|
|
R516G
|
|
Other Details
|
|
|
Contributors
|
Arduino C.
2002-01-01
|
|
Institute
|
Servizio di Genetica Medica, Torino, Italy
|
|
Submitted Phenotype Details
|
The female CF patient (20 years old) was diagnosed at 14y. She is PS, sweat chloride was 114 mmol/l and FEV1 61%. She has bronchiectasis. She carries deltaF508 on the other allele. (pers. corr. Arduino)
|
|
Reference
|
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
