Proband information


Proband id 473
Systematic Name
(NM_004992.3:)		 c.[916C>T(;)984C>T]
Protein name
(NP_004983)		 p.[Arg306Cys(;)Leu328Leu]
Alternate systematic Name
(NM_001110792.1:)		 c.[952C>T;1020C>T]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296363G>A;153296295G>A]
Mutation type Missense, silent
Domain TRD, C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity 80 chromosomes tested and not found in 0 chromosomes
Detection direct
Extent Exons 2-4
Source of DNA blood
Carrier Y
Carrier result Mother is carrier of silent polymorphism 984C>T but not mutation 916C>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.[916C>T(;)984C>T] p.[Arg306Cys(;)Leu328Leu] Female Mother is carrier of silent polymorphism 984C>T but not mutation 916C>T Rett syndrome-Classical 473 :::