Proband information


Proband id 4349
Systematic Name
(NM_004992.3:)
c.378-109A>G
Protein name
(NP_004983)
intronic variation
Alternate systematic Name
(NM_001110792.1:)
c.414-109A>G
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153297010T>C
Mutation type intronic variation
Domain intronic
Pathogenicity Polymorphism not causing disease
Evidence of Pathogenicity 100 chromosomes tested and not found in 99 chromosomes
Detection direct
Extent exons 2-4
Source of DNA blood
Carrier N
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial
Phenotype-class Rett syndrome-Atypical
Reference 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

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.378-109A>G intronic variation Female Rett syndrome-Atypical 4349 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
2 c.378-109A>G intronic variation Female absent in mother Rett syndrome-Atypical 4350 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
3 c.378-109A>G intronic variation Female Not Rett synd. 4390 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