Proband information


Proband id 1970
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
Evidence of Pathogenicity
Detection DHPLC
Extent Fragment containing mutation found in relative
Source of DNA CVS
Carrier Y
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 Gender Carrier result Phenotype Proband id Reference
1 c.567dupA p.Arg190fs Female Neither parent has variation, unborn sister has variation 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 Female Neither parent has variation, affected sister has variation 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