Mutation Details for c.2918T>A
|
|
cDNA Name
|
c.2918T>A
|
|
Protein Name
|
p.Leu973His
|
|
Exon or Intron
|
exon 18
|
|
Legacy Exon or Intron
|
exon 16
|
|
|
L973H
|
|
Other Details
|
This change has been detected by SSCP/HD analysis and direct sequencing in one Spanish chromosome
|
|
Contributors
|
J. Gimenez, MD. Ramos, L. T. Casals
2004-12-29
|
|
Institute
|
CGMM-IRO. Barcelona. Spain
|
|
Submitted Phenotype Details
|
Male patient (36 y) with congenital bilateral absence of vas deferens. He presents the genotype [F508del] + [L973H] (pers. corr. T. Casals)
|
|
Reference
|
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
