Variant information


Systematic Name c.766_779dup14
Protein name p.Asp260fs
Mutation type frameshift insertion or deletion
Domain TRD-NLS
Pathogenicity Mutation associated with disease

Proband information


Source of DNA blood or fibroblasts
Detection direct
Extent exons 2-4
Number of chromosomes checked
Carrier status checked Yes
Carrier result de novo
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with X chromosome inactivation patterm:Nielsen JB, Henriksen KF, Hansen C, Silahtaroglu A, Schwartz M, Tommerup N:European Journal of Human Genetics: 11313756

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.766_779dup14 p.Asp260fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-classical 3380 MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with X chromosome inactivation patterm:Nielsen JB, Henriksen KF, Hansen C, Silahtaroglu A, Schwartz M, Tommerup N:European Journal of Human Genetics: 11313756