Variant information


Systematic Name c.620dupT
Protein name p.Gln208fs
Mutation type Frameshift insertion or deletion
Domain TRD
Pathogenicity Mutation associated with disease

Proband information


Source of DNA Blood
Detection SSCP
Extent Exons 2-4
Number of chromosomes checked
Carrier status checked Yes
Carrier result Not present in mother
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Unknown
Sporadic/Familial Sporadic
Phenotype-class Rett syndrome-Classical
Reference Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2:Amir, Ruthie E., Van den Veyver, Ignatia B., Wan, Mimi, Tran, Charles Q., Francke, Uta and Zoghbi, Huda Y.:Nature Genetics: 10508514

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.620dupT p.Gln208fs Frameshift insertion or deletion TRD Mutation associated with disease Unknown Rett syndrome-Classical 843 Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2:Amir, Ruthie E., Van den Veyver, Ignatia B., Wan, Mimi, Tran, Charles Q., Francke, Uta and Zoghbi, Huda Y.:Nature Genetics: 10508514