Proband information


Proband id 914
Systematic Name
(NM_004992.3:)		 c.1145_1194del50
Protein name
(NP_004983)		 p.Leu382fs
Alternate systematic Name
(NM_001110792.1:)		 c.1181_1230del50
Alternate Protein name
(NP_001104262)		 p.(Leu394Profs*6)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296085_153296134del50
Mutation type Frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection
Extent
Source of DNA
Carrier
Carrier result
Other mutations
X-inactivation results
X-inactivation relatives
Gender Unknown
Sporadic/Familial
Phenotype-class Rett syndrome-Classical
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1145_1194del50 p.Leu382fs Unknown Rett syndrome-Classical 914 :::
2 c.1145_1194del50 p.Leu382fs Female de novo Rett syndrome-classical 3358 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