Mutation Details for c.359C>T
|
|
cDNA Name
|
c.359C>T
|
|
Protein Name
|
p.Ala120Val
|
|
Exon or Intron
|
exon 4
|
|
Legacy Exon or Intron
|
exon 4
|
|
|
A120V
|
|
Other Details
|
This change has been detected by SSCP/HD analysis and direct sequencing.
|
|
Contributors
|
T. Casals, J. Gimenez, MD. Ramos, S. Gartner
2003-04-09
|
|
Institute
|
CGMM-IRO Barcelona, Spain UFQ, HVH Barcelona, Spain
|
|
Submitted Phenotype Details
|
The patient 2 months old was identified in the neonatal screening program. He carries the G542X mutation on the other allele. To date, the patient 6 monts old, normal sweat test and without symptoms.
|
|
Reference
|
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
