Proband information


Proband id 1969
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 direct
Extent Exons 2-4
Source of DNA blood
Carrier Y
Carrier result Neither parent has variation, unborn sister has variation
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Familial
Phenotype-class Rett syndrome-Not certain
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