Proband information


Proband id 3383
Systematic Name
(NM_004992.3:)		 c.76delC
Protein name
(NP_004983)		 p.Leu26fs
Alternate systematic Name
(NM_001110792.1:)		 c.112delC
Alternate Protein name
(NP_001104262)		 p.(Leu38Serfs*6)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153297959delG
Mutation type frameshift insertion or deletion
Domain N-term
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.76delC p.Leu26fs Unknown Rett syndrome-Classical 878 :::
2 c.76delC p.Leu26fs Female de novo Rett syndrome-classical 3383 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