Proband information


Proband id 440
Systematic Name
(NM_004992.3:)		 c.[397C>T(;)438C>T]
Protein name
(NP_004983)		 p.[Arg133Cys(;)Gly146Gly]
Alternate systematic Name
(NM_001110792.1:)		 c.[433C>T;474C>T]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296882G>A;153296841G>A]
Mutation type Missense, silent
Domain MBD
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 N
Carrier result
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.[397C>T(;)438C>T] p.[Arg133Cys(;)Gly146Gly] Female Rett syndrome-Classical 440 :::