Proband information


Proband id 374
Systematic Name
(NM_004992.3:)
c.[590C>T(;)674C>T]
Protein name
(NP_004983)
p.[Thr197Met(;)Pro225Arg]
Alternate systematic Name
(NM_001110792.1:)
c.[626C>T;710C>T]
Alternate Protein name
(NP_001104262)
p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.[153296689G>A;153296605G>A]
Mutation type Missense
Domain Inter-domain region, TRD
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity 80 chromosomes tested and not found in 80 chromosomes
Detection direct
Extent Exons 2-4
Source of DNA blood
Carrier Y
Carrier result Mother is not carrier, Father is carrier of polymorphism, Brother is not carrier, two sisters are carriers of polymorphism
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.[590C>T(;)674C>T] p.[Thr197Met(;)Pro225Arg] Female Mother is not carrier, Father is carrier of polymorphism, Brother is not carrier, two sisters are carriers of polymorphism Rett syndrome-Atypical 374 :::