Variant information

Systematic Name
Protein name
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
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.464T>C p.Phe155Ser Unknown Rett syndrome-Classical 840 Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2:Amir, Ruthie E., Van den Veyver, Ignatia B., Wan, Mimi, Tran, Charles Q., Francke, Uta and Zoghbi, Huda Y.:Nature Genetics: 10508514 View details
2 c.464T>C p.Phe155Ser Female Rett syndrome-Not certain 1032 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898 View details