Variant information


Systematic Name c.651_652delTG
Protein name p.Gly218fs
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 Female
Sporadic/Familial Not known
Phenotype-class Not Known
Reference :Friez, Michael::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.651_652delTG p.Gly218fs Frameshift insertion or deletion TRD Mutation associated with disease Female Not Known 1774 :Friez, Michael::
2 c.651_652delTG p.Gly218fs frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-not certain 2542 The MECP2 gene mutation screening in Rett Syndrome patients from Croatia:Matijevic, T., Knezeviv, J., Barisic, I., Resic, B., Culic, V., Pavelic, J.:Annals New York Academy of Sciences: 17341617