Mutation Details for c.3476C>A
|
cDNA Name
|
c.3476C>A
|
Protein Name
|
p.Ser1159Tyr
|
Exon or Intron
|
exon 22
|
Other Details
|
Detection by sequencing the CFTR gene
|
Contributors and Institutes
|
Dr. R. Maiwald | - | Laboratory Dr. Reising-Ackermann, Leipzig, Germany | Dr. B. Thamm-Mücke | - | Laboratory Dr. Reising-Ackermann, Leipzig, Germany |
|
Submitted Phenotype Details
|
Asymptomatic female. Heterozygositiy screening was performed since her partner is ΔF508 heterozygous. He was screened for CFTR mutations due to azoospermia
|
Reference
|
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|