Proband information


Proband id 441
Systematic Name
(NM_004992.3:)		 c.[819G>T(;)1161C>T]
Protein name
(NP_004983)		 p.[Gly273Gly(;)Pro387Pro]
Alternate systematic Name
(NM_001110792.1:)		 c.[855G>T;1197C>T]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296460C>A;153296118G>A]
Mutation type Silent
Domain TRD, C-term
Pathogenicity Silent polymorphism
Evidence of Pathogenicity 80 chromosomes tested and not found in 80 chromosomes
Detection dhplc
Extent Exons 2-4
Source of DNA blood
Carrier Y
Carrier result Mother is carrier of 819G>T silent polymorphism but not screened for 1161C>T silent 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.[819G>T(;)1161C>T] p.[Gly273Gly(;)Pro387Pro] Female Mother is carrier of 819G>T silent polymorphism but not screened for 1161C>T silent polymorphism Rett syndrome-Atypical 441 :::