Variant information


Systematic Name c.567dupA
Protein name p.Arg190fs
Mutation type Frameshift insertion or deletion
Domain Inter-domain region
Pathogenicity Mutation associated with disease

Proband information


Source of DNA CVS
Detection DHPLC
Extent Fragment containing mutation found in relative
Number of chromosomes checked
Carrier status checked Yes
Carrier result Neither parent has variation, affected sister has variation
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Familial
Phenotype-class Not Known
Reference 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

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.567dupA p.Arg190fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease 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
2 c.567dupA p.Arg190fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease 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