Mutation Details for c.2057C>A
|
|
cDNA Name
|
c.2057C>A
|
|
Protein Name
|
p.Ser686Tyr
|
|
Exon or Intron
|
exon 14
|
|
Legacy Exon or Intron
|
exon 13
|
|
|
S686Y
|
|
Other Details
|
|
|
Contributors
|
Angius A, Bitetti M, Furbetta M.
2006-05-12
|
|
Institute
|
Pediatria, Laboratorio di Genetica Molecolare, Università degli Studi di Perugia, Italy.
|
|
Submitted Phenotype Details
|
This mutation was identified in a adult Italian man with asthenospermia studied for couple?s infertility.
The above mutation was detected by DGGE analysis and confirmed by DNA sequencing.
|
|
Reference
|
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
