Proband information



Proband id 1122
Systematic Name c.1308_1309delTC
Protein name p.Gln437fs
Mutation type Frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease
Detection
Extent
Carrier 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

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id Reference
1 c.1308_1309delTC p.Gln437fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Not certain 1122 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
2 c.1308_1309delTC p.Gln437fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-classical 6642 :::