Proband information


Proband id 2338
Systematic Name
(NM_004992.3:)
c.146C>A
Protein name
(NP_004983)
p.Ser49*
Alternate systematic Name
(NM_001110792.1:)
c.182C>A
Alternate Protein name
(NP_001104262)
p.(Ser61*)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153297889G>T
Mutation type Nonsense
Domain N-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection Not known
Extent Exons 2-4 (at least)
Source of DNA Blood or skin
Carrier NC
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Rett syndrome-Atypical
Reference :Cardiff, UK::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.146C>A p.Ser49* Unknown Rett syndrome-Not certain 236 A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients:Bourdon, Violaine, Philippe, Christophe, Labrune, Orianne, Amsallem, Daniel, Arnould, CÚcile, Jonveaux, Philippe:Human genetics: 11214906
2 c.146C>A p.Ser49* Female Not Known 1755 :Friez, Michael::
3 c.146C>A p.Ser49* Female Rett syndrome-Atypical 2338 :Cardiff, UK::
4 c.146C>A p.Ser49* Female Rett syndrome-classical 6602 :::