Variant information


Systematic Name c.753dupC
Protein name p.Gly252fs
Mutation type Frameshift insertion or deletion
Domain TRD
Pathogenicity Mutation associated with disease

Proband information


Source of DNA brain
Detection direct
Extent Exons 2-4
Number of chromosomes checked 80 chromosomes tested and not found in 80 chromosomes
Carrier status checked NA
Carrier result Brain sample
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Sporadic
Phenotype-class Rett syndrome-Not certain
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.753dupC p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-Not certain 369 :::
2 c.753dupC p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Male Not Rett synd. 1199 Rett syndrome: clinical manifestations in males with MECP2 mutations:Ben Zeev, Bruria, Yaron, Yuval, Schanen, N. Carolyn, Wolf, Haika, Brandt, Nathan, Ginot, Nathan, Shomrat, Ruth and Orr-Urtreger, Avi:Journal of Child Neurology: 11913564
3 c.753dupC p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-Classical 1200 Rett syndrome: clinical manifestations in males with MECP2 mutations:Ben Zeev, Bruria, Yaron, Yuval, Schanen, N. Carolyn, Wolf, Haika, Brandt, Nathan, Ginot, Nathan, Shomrat, Ruth and Orr-Urtreger, Avi:Journal of Child Neurology: 11913564
4 c.753dupC p.Gly252fs frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-Classical 2598 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