Variant information


Systematic Name
(NM_004992.3:)		 c.-131delinsGA
Protein name
(NP_004983)		 p.(=)
Alternate systematic Name
(NM_001110792.1:)		 c.30delCinsGA
Alternate Protein name
(NP_001104262)		 p.(Ser10Argfs*32)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153363093delinsTC
Mutation type frameshift combined insertion and 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.-131delinsGA p.(=) Female Rett syndrome-Classical 2497 Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene:D Bartholdi, A Klein, M Weissert, N Koenig, A Baumer, E Boltshauser, A Schinzel, W Berger and G Mátyás:Clinical Genetics: 16630165 View details