Variant information


Systematic Name c.454C>G
Protein name p.Pro152Ala
Mutation type missense
Domain MBD
Pathogenicity Mutation associated with disease

Proband information


Source of DNA blood
Detection direct
Extent NK
Number of chromosomes checked 100 chromosomes tested and not found in 100 chromosomes
Carrier status checked Yes
Carrier result found in father
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial familial
Phenotype-class Not Rett synd.-Pervasive developmental disorder-not otherwise specified
Reference A novel hypomorphic MECP2 point mutation is associated with a neuropsychiatric phenotype:Adegbola, A.A., Gonzales, M.L., Chess, A., LaSalle, J.M., Cox, G.F.:Human Genetics: 18989701

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.454C>G p.Pro152Ala missense MBD Mutation associated with disease Female Not Rett synd. 3856 A novel hypomorphic MECP2 point mutation is associated with a neuropsychiatric phenotype:Adegbola, A.A., Gonzales, M.L., Chess, A., LaSalle, J.M., Cox, G.F.:Human Genetics: 18989701
2 c.454C>G p.Pro152Ala missense MBD Mutation associated with disease Male Not Rett synd. 3857 A novel hypomorphic MECP2 point mutation is associated with a neuropsychiatric phenotype:Adegbola, A.A., Gonzales, M.L., Chess, A., LaSalle, J.M., Cox, G.F.:Human Genetics: 18989701