Variant information


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

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.-138_-134dupCGCCG p.(=) Female 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 View details