Proband information


Proband id 475
Systematic Name
(NM_004992.3:)		 c.[608C>T(;)763C>T]
Protein name
(NP_004983)		 p.[Thr203Met(;)Arg255*]
Alternate systematic Name
(NM_001110792.1:)		 c.[644C>T;799C>T]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296671G>A;153296516G>A]
Mutation type Missense, nonsense
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 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.[608C>T(;)763C>T] p.[Thr203Met(;)Arg255*] Female Rett syndrome-Classical 475 :::