Variant information


Systematic Name
(NM_004992.3:)		 c.766_779dup14
Protein name
(NP_004983)		 p.Asp260fs
Alternate systematic Name
(NM_001110792.1:)		 c.802_815dup14
Alternate Protein name
(NP_001104262)		 p.(Asp272Glufs*34)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296500_153296513dup14
Mutation type frameshift insertion or deletion
Domain TRD-NLS
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.766_779dup14 p.Asp260fs 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 View details