Mutation Details for c.3220T>C
|
Note: this mutation was submitted but not yet reviewed by our curator.
|
|
cDNA Name
|
c.3220T>C
|
|
Protein Name
|
p.Phe1074Leu
|
|
Exon or Intron
|
|
|
Other Details
|
|
|
Contributors and Institutes
|
| Angius A.,Stasi M.,CardelliniM.C., Becchetti T., Furbetta M. | - | Institute of Pediatria- Lab.di Genetica Molecolare- Università degli Studi di Perugia |
|
|
Submitted Phenotype Details
|
F1074L was observed by direct sequencing after detection of an abnormal DGGE pattern in exon 17b in two male italian patients with oligospermia studied in a screening program for couple's infertility.
|
|
Reference
|
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
