Proband information


Proband id 4340
Systematic Name
(NM_004992.3:)		 c.[473C>T(;)*14G>A]
Protein name
(NP_004983)		 "p.Thr158Met, 3'UTR variation"
Alternate systematic Name
(NM_001110792.1:)		 c.[509C>T;*14G>A]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296806G>A;153295804C>T]
Mutation type missense, 3'UTR variation
Domain MBD, 3'UTR
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity 100 chromosomes tested and not found in 100 chromosomes
Detection direct
Extent exons 2-4
Source of DNA blood
Carrier N
Carrier result
Other mutations Y
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.[473C>T(;)*14G>A] "p.Thr158Met, 3'UTR variation" Female Rett syndrome-Atypical 4340 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