Variant information


Systematic Name
(NM_004992.3:)		 c.454C>G
Protein name
(NP_004983)		 p.Pro152Ala
Alternate systematic Name
(NM_001110792.1:)		 c.490C>G
Alternate Protein name
(NP_001104262)		 p.(Pro164Ala)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296825G>C
Mutation type missense
Domain MBD
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.454C>G p.Pro152Ala 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 View details
2 c.454C>G p.Pro152Ala 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 View details