Proband information
Proband id | 3856 |
---|---|
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 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 | 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 |