Proband information


Proband id 5080
Systematic Name
(NM_004992.3:)		 c.1053C>G
Protein name
(NP_004983)		 p.Pro351Pro
Alternate systematic Name
(NM_001110792.1:)		 c.1089C>G
Alternate Protein name
(NP_001104262)		 p.(=)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296226G>C
Mutation type silent
Domain C-term
Pathogenicity Silent polymorphism
Evidence of Pathogenicity
Detection DHPLC
Extent exons 2-4
Source of DNA blood
Carrier N
Carrier result
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial
Phenotype-class Not Rett synd.-autism
Reference Mutational analysis of the methyl-CpG-binding protein 2 (MECP2) gene in male autism patients:Wang, S.M., Li, M., Yang, Y.L., Pan, H., Liu, J., Pan, K.F., Bu, D.F.:Journal of Peking University (Health Sciences): 23591336

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1053C>G p.Pro351Pro Male Not Rett synd. 5080 Mutational analysis of the methyl-CpG-binding protein 2 (MECP2) gene in male autism patients:Wang, S.M., Li, M., Yang, Y.L., Pan, H., Liu, J., Pan, K.F., Bu, D.F.:Journal of Peking University (Health Sciences): 23591336