Variant information


Systematic Name
(NM_004992.3:)		 c.326dupA
Protein name
(NP_004983)		 p.Gln110fs
Alternate systematic Name
(NM_001110792.1:)		 c.362dupA
Alternate Protein name
(NP_001104262)		 p.(Gln122Alafs*12)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153297709dupT
Mutation type frameshift insertion or deletion
Domain MBD
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.326dupA p.Gln110fs Female Rett syndrome-Classical 4347 Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients:Monnerat, L.S., Moreira, A.D.S., Alves,M.C.V., Bonvicino, C.R., Vargas, F.R.:Brain & Development: 20031356 View details