Proband information


Proband id 3855
Systematic Name
(NM_004992.3:)
c.[27-?_1000+?dup(;)1100_1188del89]
Protein name
(NP_004983)
p.[?(;)His367fs]
Alternate systematic Name
(NM_001110792.1:)
c.[63_1036dup;1136_1224del89]
Alternate Protein name
(NP_001104262)
p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.[153296279_153298008dup;153296091_153296179del89]
Mutation type complex rearrangement, frameshift 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-?_1000+?dup(;)1100_1188del89] p.[?(;)His367fs] Female de novo Rett syndrome-classical 3855 Multiple de novo mutations in the MECP2 gene:Bunyan, D.J., Robinson, D.O.:Genetics Testing: 18652533