Proband information


Proband id 2802
Systematic Name
(NM_004992.3:)
c.-138_-134dupCGCCG
Protein name
(NP_004983)
p.(=)
Alternate systematic Name
(NM_001110792.1:)
c.23_27dupCGCCG
Alternate Protein name
(NP_001104262)
p.(Ser10Argfs*36)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153363096_153363100dupCGGCG
Mutation type frameshift insertion or deletion
Domain N-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent promoter and exon 1
Source of DNA NK
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 Mutations found within exon 1 of MECP2 in Danish patients with Rett syndrome:Ravn, K., Nielsen, J.B., Schwartz, M.:Clinical Genetics: 15857422

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.-138_-134dupCGCCG p.(=) Female de novo Rett syndrome-classical 2802 Mutations found within exon 1 of MECP2 in Danish patients with Rett syndrome:Ravn, K., Nielsen, J.B., Schwartz, M.:Clinical Genetics: 15857422