Variant information


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

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.378-3_383del9 p.Asn126Lysfs*11 Male 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 View details