Variant information


Systematic Name c.984C>A
Protein name p.Leu328Leu
Mutation type silent
Domain C-term
Pathogenicity Silent polymorphism

Proband information


Source of DNA blood
Detection SSCP
Extent 90% coding region
Number of chromosomes checked 50 chromosomes tested and not found in 50 chromosomes
Carrier status checked Not checked
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial sporadic
Phenotype-class Not Known
Reference :Khajuria, R.::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.984C>A p.Leu328Leu silent C-term Silent polymorphism Male Not Known 3911 :Khajuria, R.::
2 c.984C>A p.Leu328Leu silent C-term Silent polymorphism Unknown Not Rett synd. 5206 MECP2 gene study in a large cohort testing of 240 female patients and 861 healthy controls (519 females and 342 males):Maortua, H., Martinez-Bouzas, C., Garcia-Ribes, A., Martinez, M.-J., Guillen, E., Domingo, M.-R., Calvo, M.-T., Guitart, M., Gabau, E., Botella, M.-P., Gener, B., Rubio, I., Lopez-Ariztegui, M.-A., Tejada, M.-I.:J Mol Diagn: 23810759