Proband information


Proband id 438
Systematic Name
(NM_004992.3:)
c.[473C>T];[1189G>A]
Protein name
(NP_004983)
p.[Thr158Met];[Glu397Lys]
Alternate systematic Name
(NM_001110792.1:)
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
Mutation type Missense
Domain MBD, C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity 80 chromosomes tested and not found in 0 chromosomes
Detection dhplc
Extent Exons 2-4
Source of DNA blood
Carrier Y
Carrier result Mother is carrier of polymorphism 1189G>A but not mutation 473C>T, Father is not carrier
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Sporadic
Phenotype-class Rett syndrome-Atypical
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.[473C>T];[1189G>A] p.[Thr158Met];[Glu397Lys] Female Mother is carrier of polymorphism 1189G>A but not mutation 473C>T, Father is not carrier Rett syndrome-Atypical 438 :::