Proband information


Proband id 3380
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
Evidence of Pathogenicity
Detection direct
Extent exons 2-4
Source of DNA blood or fibroblasts
Carrier Y
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 Gender Carrier result Phenotype Proband id Reference
1 c.766_779dup14 p.Asp260fs Female de novo 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