Proband information


Proband id 4827
Systematic Name
(NM_004992.3:)		 c.27-?_1029+?del (deletion of exon 3 and partial deletion of exon 4)
Protein name
(NP_004983)		 p.Arg9?
Alternate systematic Name
(NM_001110792.1:)
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
Mutation type frameshift insertion or deletion
Domain N-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection array CGH, MLPA
Extent all MECP2
Source of DNA blood
Carrier Y
Carrier result de novo
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-congenital
Reference Congenital variant of Rett syndrome due to an intragenic large deletion in MECP2:Kobayashi, Y., Ohashi, T., Akasaka, N., Tohyama, J.:Brain & Development: 22001500

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.27-?_1029+?del (deletion of exon 3 and partial deletion of exon 4) p.Arg9? Female de novo Rett syndrome-congenital 4827 Congenital variant of Rett syndrome due to an intragenic large deletion in MECP2:Kobayashi, Y., Ohashi, T., Akasaka, N., Tohyama, J.:Brain & Development: 22001500