Variant information


Systematic Name c.611C>G
Protein name p.Ser204*
Mutation type nonsense
Domain inter-domain
Pathogenicity Mutation associated with disease

Proband information


Source of DNA Blood
Detection direct
Extent all exons
Number of chromosomes checked
Carrier status checked N
Carrier result
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.611C>G p.Ser204* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 1079 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.611C>G p.Ser204* Nonsense Inter-domain region Mutation associated with disease Female Not Known 1726 :Friez, Michael::
3 c.611C>G p.Ser204* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-atypical 1943 Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome:Schanen, C., Houwink, EJ., Dorrani, N., Lane, J., Everett, R., Feng, A., Cantor, RM. and Percy, A:American Journal of Medical Genetics: 15057977
4 c.611C>G p.Ser204* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2596 Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578
5 c.611C>G p.Ser204* nonsense inter-domain Mutation associated with disease Female Rett syndrome-classical 6586 :::