Variant information


Systematic Name
(NM_004992.3:)		 c.567dupA
Protein name
(NP_004983)		 p.Arg190fs
Alternate systematic Name
(NM_001110792.1:)		 c.603dupA
Alternate Protein name
(NP_001104262)		 p.(Arg202Thrfs*46)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296712dupT
Mutation type Frameshift insertion or deletion
Domain Inter-domain region
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.567dupA p.Arg190fs Female Rett syndrome-Not certain 1969 Germline mosaicism in Rett syndrome identified by prenatal diagnosis:Mari F, Caselli R, Russo S, Cogliati F, Ariani F, Longo I, Bruttini M, Meloni I, Pescucci C, Schurfeld K, Toti P, Tassini M, Larizza L, Hayek G, Zappella M, Renieri A:Clinical Genetics: 15691364 View details
2 c.567dupA p.Arg190fs Female Not Known 1970 Germline mosaicism in Rett syndrome identified by prenatal diagnosis:Mari F, Caselli R, Russo S, Cogliati F, Ariani F, Longo I, Bruttini M, Meloni I, Pescucci C, Schurfeld K, Toti P, Tassini M, Larizza L, Hayek G, Zappella M, Renieri A:Clinical Genetics: 15691364 View details