Proband information


Proband id 3852
Systematic Name
(NM_004992.3:)		 c.[343C>T(;)1075_1178del104]
Protein name
(NP_004983)		 p.[Arg115Cys(;)Ser359fs]
Alternate systematic Name
(NM_001110792.1:)		 c.[379C>T;1111_1214del104]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153297692G>A;153296101_153296204del104]
Mutation type missense, frameshift insertion or deletion
Domain MBD, C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection DHPLC
Extent exons 2-4
Source of DNA blood
Carrier Y
Carrier result de novo
Other mutations Y
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference Multiple de novo mutations in the MECP2 gene:Bunyan, D.J., Robinson, D.O.:Genetics Testing: 18652533

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.[343C>T(;)1075_1178del104] p.[Arg115Cys(;)Ser359fs] Female de novo Rett syndrome-classical 3852 Multiple de novo mutations in the MECP2 gene:Bunyan, D.J., Robinson, D.O.:Genetics Testing: 18652533