Mutation Details for c.2940A>G
|
|
cDNA Name
|
c.2940A>G
|
|
Protein Name
|
p.Ile980Met
|
|
Exon or Intron
|
exon 18
|
|
Legacy Exon or Intron
|
exon 16
|
|
|
I980M
|
|
Other Details
|
The I980M mutation was detected in CFTR gene by DHPLC and identified by direct sequencing. No other mutation was found when the 27 exons of CFTR gene were studied by DHPLC or DGGE.
|
|
Contributors
|
Pasquet M.C., Baudis M., Deshayes M., Kitzis A.
2007-01-18
|
|
Institute
|
Laboratoire de Génétique Cellulaire et Moléculaire, CHU de Poitiers, France
|
|
Submitted Phenotype Details
|
The patient, 32 years old, presents an oligospermy.
|
|
Reference
|
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
