Proband information


Proband id 2781
Systematic Name
(NM_004992.3:)		 c.-102_-101delGA
Protein name
(NP_004983)		 p.(=)
Alternate systematic Name
(NM_001110792.1:)		 c.59_60delGA
Alternate Protein name
(NP_001104262)		 p.(Arg20Thrfs*21)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153363063_153363064delTC
Mutation type frameshift insertion or deletion
Domain N-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent exon1
Source of DNA not known
Carrier Y
Carrier result de novo
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference A patient with classic Rett syndrome with a novel mutation in MECP2 exon 1:Chunshu, Y., Endoh, K., Soutome, M., Kawamura, R., Kubota, T.:Clinical Sciences: 17101000

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.-102_-101delGA p.(=) Female de novo Rett syndrome-classical 2781 A patient with classic Rett syndrome with a novel mutation in MECP2 exon 1:Chunshu, Y., Endoh, K., Soutome, M., Kawamura, R., Kubota, T.:Clinical Sciences: 17101000