Proband information


Proband id 3827
Systematic Name
(NM_004992.3:)		 c.378-3_383del9
Protein name
(NP_004983)		 p.Asn126Lysfs*11
Alternate systematic Name
(NM_001110792.1:)		 c.414-3_419del9
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296896_153296904del9
Mutation type frameshift insertion or deletion
Domain MBD
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent NK
Source of DNA fibroblasts
Carrier Y
Carrier result mother normal
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial sporadic
Phenotype-class Not Rett synd.-Severe congenital encephalopathy
Reference Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypozia and reduced neuronal dentritic structure:Schule, B., Armstrong, D.D., Vogel, H., Oviedo, A., Francke, U.:Clinical Genetics: 18477000

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.378-3_383del9 p.Asn126Lysfs*11 Male mother normal Not Rett synd. 3827 Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypozia and reduced neuronal dentritic structure:Schule, B., Armstrong, D.D., Vogel, H., Oviedo, A., Francke, U.:Clinical Genetics: 18477000