Proband information


Proband id 4855
Systematic Name
(NM_004992.3:)		 c.1161_1166del6
Protein name
(NP_004983)		 p.Pro390_Pro391del
Alternate systematic Name
(NM_001110792.1:)		 c.1197_1202del6
Alternate Protein name
(NP_001104262)		 p.(Pro402_Pro403del)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296113_153296118del6
Mutation type in-frame insertion or deletion
Domain C-term
Pathogenicity Unknown
Evidence of Pathogenicity
Detection DGGE, ECMA
Extent exons 3 and 4 only
Source of DNA blood
Carrier N
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Not Rett synd.-Angelman syndrome-like
Reference MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders:Psoni, S., Sofocleous, C., Traeger-Synodinos, J., Kitsiou-Tzeli, S., Kanavakis, E., Fryssira-Kanioura, H.:Brain & Development: 21982064

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1161_1166del6 p.Pro390_Pro391del Female Not Rett synd. 4855 MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders:Psoni, S., Sofocleous, C., Traeger-Synodinos, J., Kitsiou-Tzeli, S., Kanavakis, E., Fryssira-Kanioura, H.:Brain & Development: 21982064