Proband information


Proband id 4341
Systematic Name
(NM_004992.3:)
c.[763C>T(;)1133C>G]
Protein name
(NP_004983)
p.[Arg255*(;)Ala378Gly]
Alternate systematic Name
(NM_001110792.1:)
c.[799C>T;1169C>G]
Alternate Protein name
(NP_001104262)
p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.[153296516G>A;153296146G>C]
Mutation type nonsense, missense
Domain TRD, C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent exons 2-4
Source of DNA blood
Carrier Y
Carrier result absent in mother
Other mutations Y
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial
Phenotype-class Rett syndrome-Classical
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.[763C>T(;)1133C>G] p.[Arg255*(;)Ala378Gly] Female absent in mother Rett syndrome-Classical 4341 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