Proband information


Proband id 454
Systematic Name
(NM_004992.3:)		 c.[808C>T(;) 1233C>T]
Protein name
(NP_004983)		 p.[Arg270*(;) Ser411Ser]
Alternate systematic Name
(NM_001110792.1:)		 c.[844C>T;1269C>T]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296471G>A;153296046G>A]
Mutation type nonsense, silent
Domain TRD-NLS, C-term
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 silent polymorphism 1233C>T
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Sporadic
Phenotype-class Rett syndrome-Classical
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.[808C>T(;) 1233C>T] p.[Arg270*(;) Ser411Ser] Female Mother is not carrier, Father is carrier of silent polymorphism 1233C>T Rett syndrome-Classical 454 :::