Proband information


Proband id 1138
Systematic Name c.257C>G
Protein name p.Ser86Cys
Genomic name g.153297778G>C
Mutation type Missense
Domain MBD
Pathogenicity Unknown
Evidence of Pathogenicity
Chromosomes tested
Detection
Extent
Source of DNA
Carrier status checked? NC
Carrier result
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial
Phenotype-class Rett syndrome-Not certain
Reference 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