Proband information


Proband id 3857
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
Evidence of Pathogenicity 100 chromosomes tested and not found in 100 chromosomes
Detection direct
Extent NK
Source of DNA blood
Carrier Y
Carrier result found in daughter
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial familial
Phenotype-class Not Rett synd.-Not 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 Gender Carrier result Phenotype Proband id Reference
1 c.454C>G p.Pro152Ala Female found in father 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 Male found in daughter 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