Variant information


Systematic Name
(NM_004992.3:)		 c.(378_1461)_(378_1461)del
Protein name
(NP_004983)		 p.(Asn126+Ser486)fs
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 Not known
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.(378_1461)_(378_1461)del p.(Asn126+Ser486)fs Female Rett syndrome-Classical 2083 :Cardiff, UK:: View details
2 c.(378_1461)_(378_1461)del p.(Asn126+Ser486)fs Female Rett syndrome-Classical 2084 :Cardiff, UK:: View details
3 c.(378_1461)_(378_1461)del p.(Asn126+Ser486)fs Female Rett syndrome-Atypical 2085 :Cardiff, UK:: View details
4 c.(378_1461)_(378_1461)del p.(Asn126+Ser486)fs Female Rett syndrome-Classical 2086 :Cardiff, UK:: View details
5 c.(378_1461)_(378_1461)del p.(Asn126+Ser486)fs Female Rett syndrome-Not certain 2087 :Cardiff, UK:: View details
6 c.(378_1461)_(378_1461)del p.(Asn126+Ser486)fs Female Rett syndrome-Atypical 2499 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