Variant information


Systematic Name c.752_753dupCC
Protein name p.Gly252fs
Mutation type frameshift insertion or deletion
Domain TRD
Pathogenicity Mutation associated with disease

Proband information


Source of DNA Blood
Detection direct
Extent Exons 2-4
Number of chromosomes checked
Carrier status checked Not checked
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial Not known
Phenotype-class Not Known
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.752_753dupCC p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-Not certain 1112 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.752_753dupCC p.Gly252fs frameshift insertion or deletion TRD Mutation associated with disease Male Not Known 2047 :::
3 c.752_753dupCC p.Gly252fs frameshift insertion or deletion TRD Mutation associated with disease Female Not Known 4480 :Das, S., Dempsey, M. U. Chicago::