Proband information


Proband id 3854
Systematic Name
(NM_004992.3:)		 c.[27-?_377+?del(;)1085_1216del132]
Protein name
(NP_004983)		 p.[Arg9_Asn126delinsSer(;) Pro362_Pro405del]
Alternate systematic Name
(NM_001110792.1:)		 c.[63_413del;1121_1252del132]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153297658_153298008del;153296063_153296194del132]
Mutation type large deletion, inframe insertion or deletion
Domain MBD, C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection MLPA, 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.[27-?_377+?del(;)1085_1216del132] p.[Arg9_Asn126delinsSer(;) Pro362_Pro405del] Female de novo Rett syndrome-classical 3854 Multiple de novo mutations in the MECP2 gene:Bunyan, D.J., Robinson, D.O.:Genetics Testing: 18652533